status,gene-symbol,gene-name,chromosome,genetic-category,gene-score,syndromic,number-of-reports
9,ARHGEF9,"Cdc42 guanine nucleotide exchange factor (GEF) 9",X,"Rare Single Gene Mutation, Syndromic",4,1,6
9,ARNT2,"aryl-hydrocarbon receptor nuclear translocator 2",15,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,11
9,ATP1A3,"ATPase Na+/K+ transporting subunit alpha 3",19,"Rare Single Gene Mutation, Syndromic, Functional",,1,9
9,ATRX,"alpha thalassemia/mental retardation syndrome X-linked",X,"Rare Single Gene Mutation, Syndromic",4,0,15
9,AVPR1A,"arginine vasopressin receptor 1A",12,"Rare Single Gene Mutation, Genetic Association",3,0,20
9,CADPS2,"Ca2+-dependent activator protein for secretion 2",7,"Rare Single Gene Mutation, Functional",4,0,12
9,CHKB,"Choline kinase beta",22,"Rare Single Gene Mutation, Syndromic",,1,4
9,CNOT3,"CCR4-NOT transcription complex subunit 3",19,"Rare Single Gene Mutation, Syndromic",3,1,3
9,CTCF,"CCCTC-binding factor (zinc finger protein)",16,"Rare Single Gene Mutation, Syndromic, Functional",3,0,11
9,CTNNB1,"Catenin (cadherin-associated protein), beta 1, 88kDa",3,"Rare Single Gene Mutation, Syndromic",3,0,19
9,CTTNBP2,"cortactin binding protein 2",7,"Rare Single Gene Mutation, Syndromic",3,0,6
9,ADNP,"Activity-dependent neuroprotector homeobox",20,"Rare Single Gene Mutation, Syndromic",1,1,21
9,AP1S2,"Adaptor-related protein complex 1, sigma 2 subunit",X,"Rare Single Gene Mutation, Syndromic",,0,5
9,BIN1,"Bridging integrator 1",2,"Rare Single Gene Mutation, Genetic Association",,0,3
9,CAMSAP2,"calmodulin regulated spectrin-associated protein family, member 2",1,"Rare Single Gene Mutation",,0,1
9,CBS,"cystathionine beta-synthase",21,"Rare Single Gene Mutation, Syndromic, Functional",,0,5
9,CDKN1B,"Cyclin-dependent kinase inhibitor 1B (p27, Kip1)",12,,,0,1
9,CELF4,"CUGBP, Elav-like family member 4",18,"Rare Single Gene Mutation, Functional",,0,8
9,CEP290,"Centrosomal protein 290kDa",12,"Rare Single Gene Mutation, Syndromic",,0,6
9,CXCR3,"chemokine (C-X-C motif) receptor 3",X,"Rare Single Gene Mutation",5,0,8
9,CYP11B1,"cytochrome P450, family 11, subfamily B, polypeptide 1",8,Syndromic,4,0,4
9,DIAPH3,"Diaphanous-related formin 3",13,"Rare Single Gene Mutation, Genetic Association",5,0,11
9,DISC1,"disrupted in schizophrenia 1",1,"Rare Single Gene Mutation, Syndromic, Genetic Association",3,0,32
9,DLG4,"Discs, large homolog 4 (Drosophila)",17,"Rare Single Gene Mutation, Syndromic, Functional",,0,8
9,DMPK,"dystrophia myotonica-protein kinase",19,"Rare Single Gene Mutation, Syndromic",,1,7
9,DUSP22,"dual specificity phosphatase 22",6,"Rare Single Gene Mutation",,0,1
9,DYRK1A,"Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A",21,"Rare Single Gene Mutation, Syndromic",1,1,30
9,EEF1A2,"Eukaryotic translation elongation factor 1 alpha 2",20,"Rare Single Gene Mutation, Syndromic",,0,7
9,FBN1,"Fibrillin 1",15,"Rare Single Gene Mutation",3,0,8
9,FGFBP3,"fibroblast growth factor binding protein 3",10,"Rare Single Gene Mutation",5,0,1
9,FRMPD4,"FERM and PDZ domain containing 4",X,"Rare Single Gene Mutation, Syndromic",5,0,3
9,GLRA2,"glycine receptor, alpha 2",X,"Rare Single Gene Mutation",5,0,12
9,GRIN1,"Glutamate receptor, ionotropic, N-methyl D-aspartate 1",9,"Rare Single Gene Mutation, Functional",3,0,12
9,HCN1,"Hyperpolarization activated cyclic nucleotide-gated potassium channel 1",5,"Rare Single Gene Mutation",,1,5
9,ADORA2A,"adenosine A2a receptor",22,Syndromic,4,0,7
9,ALDH5A1,"aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )",6,"Rare Single Gene Mutation, Syndromic",,1,9
9,ALG6,"ALG6, alpha-1,3-glucosyltransferase",1,Syndromic,,1,1
9,ARID1B,"AT rich interactive domain 1B (SWI1-like)",6,"Rare Single Gene Mutation, Syndromic",1,1,30
9,ASMT,"acetylserotonin O-methyltransferase","X,Y","Rare Single Gene Mutation, Genetic Association",4,0,9
9,ASTN2,"astrotactin 2",9,"Rare Single Gene Mutation, Genetic Association",3,0,11
9,CAMTA1,"calmodulin binding transcription activator 1",1,"Rare Single Gene Mutation",5,0,7
9,CNTN4,"contactin 4",3,"Rare Single Gene Mutation, Syndromic, Genetic Association",2,0,18
9,CNTN5,"Contactin 5",11,"Rare Single Gene Mutation, Genetic Association",3,0,9
9,CNTN6,"Contactin 6",3,"Rare Single Gene Mutation, Genetic Association",3,0,10
9,DDX53,"DEAD (Asp-Glu-Ala-Asp) box polypeptide 53",X,"Rare Single Gene Mutation",4,0,3
9,DIXDC1,"DIX domain containing 1",11,"Rare Single Gene Mutation, Functional",4,0,4
9,EXT1,"Exostosin 1",8,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,FOXP1,"forkhead box P1",3,"Rare Single Gene Mutation, Syndromic, Genetic Association, Functional",2,1,32
9,FOXP2,"forkhead box P2",7,"Rare Single Gene Mutation, Genetic Association",3,0,37
9,ADCY5,"Adenylate cyclase 5",3,"Rare Single Gene Mutation",4,0,5
9,ADSL,"adenylosuccinate lyase",22,"Rare Single Gene Mutation, Syndromic",,1,5
9,AHI1,"Abelson helper integration site 1",6,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,18
9,ARHGAP32,"Rho GTPase activating protein 32",11,"Rare Single Gene Mutation, Functional",4,0,4
9,BCKDK,"Branched chain ketoacid dehydrogenase kinase",16,"Rare Single Gene Mutation",2,0,3
9,BRCA2,"breast cancer 2, early onset",13,"Rare Single Gene Mutation",4,0,3
9,BST1,"bone marrow stromal cell antigen 1",4,"Genetic Association, Functional",4,0,4
9,C12orf57,"Chromosome 12 open reading frame 57",12,"Rare Single Gene Mutation, Syndromic",,1,8
9,CACNA1C,"calcium channel, voltage-dependent, L type, alpha 1C subunit",12,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,37
9,CACNA1H,"calcium channel, voltage-dependent, alpha 1H subunit",16,"Rare Single Gene Mutation",2,0,20
9,CADM1,"cell adhesion molecule 1",11,"Rare Single Gene Mutation",4,0,8
9,CDKL5,"cyclin-dependent kinase-like 5",X,"Rare Single Gene Mutation, Syndromic",,1,29
9,CREBBP,"CREB binding protein",16,"Rare Single Gene Mutation, Syndromic, Genetic Association",5,0,17
9,CTNNA3,"catenin (cadherin-associated protein), alpha 3",10,"Rare Single Gene Mutation, Genetic Association",4,0,13
9,GATM,"Glycine amidinotransferase (L-arginine:glycine amidinotransferase)Â ",15,Syndromic,,1,2
9,AFF2,"AF4/FMR2 family, member 2",X,"Rare Single Gene Mutation, Syndromic",4,0,14
9,AFF4,"AF4/FMR2 family, member 4",5,"Rare Single Gene Mutation, Syndromic",6,0,7
9,AGBL4,"ATP/GTP binding protein-like 4",1,"Rare Single Gene Mutation",4,0,3
9,ANKRD11,"ankyrin repeat domain 11",16,"Rare Single Gene Mutation, Syndromic",2,1,32
9,ARX,"aristaless related homeobox",X,"Rare Single Gene Mutation, Syndromic",,1,14
9,DEAF1,"DEAF1 transcription factor",11,"Rare Single Gene Mutation, Syndromic",2,1,12
9,DYNC1H1,"dynein cytoplasmic 1 heavy chain 1Â ",14,"Rare Single Gene Mutation",3,0,10
9,EP300,"E1A binding protein p300",22,"Rare Single Gene Mutation, Syndromic",4,1,13
9,FABP3,"Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)",1,Functional,5,0,1
9,FABP5,"fatty acid binding protein 5 (psoriasis-associated)",8,"Rare Single Gene Mutation, Functional",4,0,6
9,FABP7,"fatty acid binding protein 7, brain",6,"Rare Single Gene Mutation, Genetic Association, Functional",6,0,7
9,FGD1,"FYVE, RhoGEF and PH domain containing 1",X,"Rare Single Gene Mutation, Syndromic",5,0,3
9,GRIK2,"glutamate receptor, ionotropic, kainate 2",6,"Rare Single Gene Mutation, Genetic Association",3,0,17
9,HDAC4,"histone deacetylase 4",2,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,12
9,BTAF1,"RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)",10,"Rare Single Gene Mutation",6,0,4
9,CC2D1A,"Coiled-coil and C2 domain containing 1A",19,"Rare Single Gene Mutation, Functional",3,0,9
9,DMD,"dystrophin (muscular dystrophy, Duchenne and Becker types)",X,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,34
9,DPP6,"dipeptidyl-peptidase 6",7,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,23
9,DRD3,"dopamine receptor D3",3,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,EHMT1,"Euchromatic histone-lysine N-methyltransferase 1",9,"Rare Single Gene Mutation, Syndromic",3,1,19
9,ESR1,"estrogen receptor 1",6,"Syndromic, Genetic Association",5,0,9
9,ESR2,"estrogen receptor 2 (ER beta)",14,"Rare Single Gene Mutation, Syndromic",4,0,7
9,FMR1,"fragile X mental retardation 1",X,"Rare Single Gene Mutation, Syndromic, Genetic Association, Functional",,1,39
9,APC,"adenomatosis polyposis coli",5,"Rare Single Gene Mutation, Genetic Association, Functional",5,0,9
9,ARHGAP24,"Rho GTPase activating protein 24",4,"Rare Single Gene Mutation",5,0,1
9,ASH1L,"Ash1 (absent, small, or homeotic)-like (Drosophila)",1,"Rare Single Gene Mutation",1,0,10
9,ASXL3,"Additional sex combs like 3 (Drosophila)",18,"Rare Single Gene Mutation, Syndromic",1,1,13
9,GABRB1,"gamma-aminobutyric acid (GABA) A receptor, beta 1",4,"Rare Single Gene Mutation, Genetic Association",5,0,5
9,GABRB3,"gamma-aminobutyric acid (GABA) A receptor, beta 3",15,"Rare Single Gene Mutation, Genetic Association",2,0,36
9,GPHN,Gephyrin,14,"Rare Single Gene Mutation",3,0,8
9,GRPR,"Gastrin-releasing peptide receptor",X,"Rare Single Gene Mutation, Genetic Association",5,0,8
9,HEPACAM,"hepatic and glial cell adhesion molecule",11,"Rare Single Gene Mutation, Syndromic",,1,7
9,HERC2,"HECT and RLD domain containing E3 ubiquitin protein ligase 2",15,"Rare Single Gene Mutation",,1,6
9,AUTS2,"autism susceptibility candidate 2",7,"Rare Single Gene Mutation, Syndromic, Genetic Association",3,0,32
9,CACNB2,"Calcium channel, voltage-dependent, beta 2 subunit",10,"Rare Single Gene Mutation, Genetic Association",3,0,3
9,CASK,"calcium/calmodulin dependent serine protein kinaseÂ ",X,"Rare Single Gene Mutation, Syndromic",4,0,9
9,CHD2,"Chromodomain helicase DNA binding protein 2",15,"Rare Single Gene Mutation, Syndromic",2,1,23
9,CHD7,"chromodomain helicase DNA binding protein 7",8,"Rare Single Gene Mutation, Syndromic",,1,20
9,CHD8,"chromodomain helicase DNA binding protein 8",14,"Rare Single Gene Mutation",1,1,25
9,ABAT,"4-aminobutyrate aminotransferase",16,"Genetic Association",4,0,4
9,ABCA10,"ATP-binding cassette, sub-family A (ABC1), member 10",17,"Rare Single Gene Mutation",4,0,1
9,ACE,"angiotensin I converting enzymeÂ ",17,"Rare Single Gene Mutation, Genetic Association",4,0,2
9,ACHE,"Acetylcholinesterase (Yt blood group)Â ",7,"Rare Single Gene Mutation",3,0,4
9,ADA,"adenosine deaminase",20,"Rare Single Gene Mutation, Genetic Association",3,0,6
9,ADCY3,"adenylate cyclase 3",2,"Rare Single Gene Mutation",3,0,2
9,ADK,"adenosine kinase",10,"Rare Single Gene Mutation",4,0,1
9,ADRB2,"adrenergic, beta-2-, receptor, surface",5,"Genetic Association",4,0,10
9,AGAP1,"ArfGAP with GTPase domain, ankyrin repeat and PH domain 1",2,"Rare Single Gene Mutation",4,0,8
9,AGAP2,"ArfGAP with GTPase domain, ankyrin repeat and PH domain 2",12,"Rare Single Gene Mutation",3,0,3
9,CHRNA7,"cholinergic receptor, nicotinic, alpha 7",15,"Rare Single Gene Mutation",3,0,11
9,CIC,"capicua transcriptional repressor",19,"Rare Single Gene Mutation, Functional",2,1,4
9,CNKSR2,"connector enhancer of kinase suppressor of Ras 2",X,Syndromic,3,1,1
9,CNR1,"cannabinoid receptor 1 (brain)",6,"Rare Single Gene Mutation, Genetic Association",3,0,6
9,DDX3X,"DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked",X,"Rare Single Gene Mutation, Syndromic",2,1,9
9,DHCR7,"7-dehydrocholesterol reductase",11,"Rare Single Gene Mutation, Syndromic",,1,12
9,ELP4,"Elongator acetyltransferase complex subunit 4",11,"Rare Single Gene Mutation, Genetic Association",3,0,5
9,FOXG1,"Forkhead box G1",14,"Rare Single Gene Mutation, Syndromic",,1,22
9,HECW2,"HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2",2,"Rare Single Gene Mutation",3,0,4
9,AGMO,"alkylglycerol monooxygenase",7,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,AGTR2,"angiotensin II receptor, type 2",X,"Rare Single Gene Mutation",4,0,3
9,AHDC1,"AT-hook DNA binding motif containing 1",1,"Rare Single Gene Mutation, Syndromic",3,1,7
9,AKAP9,"A kinase (PRKA) anchor protein 9Â ",7,"Rare Single Gene Mutation",3,0,4
9,BCL11A,"B-cell CLL/lymphoma 11A (zinc finger protein)",2,"Rare Single Gene Mutation, Syndromic",2,1,14
9,BRAF,"v-raf murine sarcoma viral oncogene homolog B",7,"Rare Single Gene Mutation, Syndromic",,1,7
9,CNTNAP2,"contactin associated protein-like 2",7,"Rare Single Gene Mutation, Syndromic, Genetic Association",2,1,56
9,CNTNAP4,"Contactin associated protein-like 4",16,"Rare Single Gene Mutation, Functional",3,0,10
9,CNTNAP5,"contactin associated protein-like 5",2,"Rare Single Gene Mutation, Genetic Association",4,0,11
9,GRIN2A,"glutamate receptor, ionotropic, N-methyl D-aspartate 2A",16,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,32
9,GRIN2B,"glutamate receptor, inotropic, N-methyl D-apartate 2B",12,"Rare Single Gene Mutation, Syndromic, Genetic Association",1,0,42
9,ALOX5AP,"arachidonate 5-lipoxygenase-activating protein",3,Functional,5,0,4
9,AMPD1,"Adenosine monophosphate deaminase 1",1,"Rare Single Gene Mutation, Genetic Association",3,0,3
9,AMT,Aminomethyltransferase,3,"Rare Single Gene Mutation",3,0,1
9,ANK2,"Ankyrin 2, neuronal",4,"Rare Single Gene Mutation",1,0,11
9,ANXA1,"Annexin A1",9,"Rare Single Gene Mutation",3,0,2
9,APBA2,"amyloid beta (A4) precursor protein-binding, family A, member 2",15,"Rare Single Gene Mutation",4,0,6
9,APH1A,"APH1AÂ gamma secretase subunitÂ ",1,"Rare Single Gene Mutation",3,0,2
9,AR,"androgen receptor",X,"Genetic Association",4,0,6
9,ARHGAP15,"Rho GTPase activating protein 15",2,"Rare Single Gene Mutation",6,0,7
9,ARHGAP33,"Rho GTPase activating protein 33",19,"Rare Single Gene Mutation, Functional",5,0,2
9,ASPM,"abnormal spindle microtubule assembly",1,"Rare Single Gene Mutation, Syndromic",3,0,5
9,ASS1,"argininosuccinate synthetase",9,Functional,5,0,3
9,ATG7,"Autophagy related 7",3,Functional,5,0,2
9,ATP10A,"Probable phospholipid-transporting ATPase VA",15,"Rare Single Gene Mutation, Genetic Association, Functional",3,0,7
9,ATP2B2,"ATPase, Ca++ transporting, plasma membrane 2",3,"Rare Single Gene Mutation, Genetic Association",3,0,7
9,ATP6V0A2,"ATPase H+ transporting V0 subunit a2",12,"Rare Single Gene Mutation",4,0,2
9,ATP8A1,"ATPase phospholipid transporting 8A1Â ",4,"Rare Single Gene Mutation, Functional",5,0,2
9,ATRNL1,"Attractin-like 1",10,"Rare Single Gene Mutation",5,0,1
9,ATXN7,"Ataxin 7",3,"Rare Single Gene Mutation",5,0,1
9,AVP,"Arginine vasopressin",20,"Genetic Association, Functional",5,0,4
9,AVPR1B,"arginine vasopressin receptor 1B",1,"Genetic Association, Functional",4,0,8
9,AZGP1,"alpha-2-glycoprotein 1, zinc-binding",7,"Rare Single Gene Mutation",4,0,2
9,BAIAP2,"BAI1-associated protein 2",17,"Rare Single Gene Mutation, Genetic Association",5,0,10
9,BCL2,"B-cell CLL/lymphoma 2",18,Functional,6,0,10
9,BRD4,"bromodomain containing 4",19,"Rare Single Gene Mutation",4,0,3
9,BRINP1,"BMP/retinoic acid inducible neural specific 1",9,Functional,5,0,2
9,BZRAP1,"benzodiazapine receptor (peripheral) associated protein 1",17,"Rare Single Gene Mutation",4,0,5
9,C11orf30,"Chromosome 11 open reading frame 30",11,"Rare Single Gene Mutation, Functional",3,0,3
9,C15orf62,"chromosome 15 open reading frame 62",15,"Rare Single Gene Mutation",4,0,2
9,C3orf58,"chromosome 3 open reading frame 58",3,"Rare Single Gene Mutation",4,0,3
9,C4B,"complement component 4B",6,"Genetic Association, Functional",4,0,5
9,CA6,"carbonic anhydrase VI",1,"Rare Single Gene Mutation",4,0,6
9,CACNA1D,"calcium channel, voltage-dependent, L type, alpha 1D",3,"Rare Single Gene Mutation, Functional",2,0,14
9,CACNA1E,"calcium voltage-gated channel subunit alpha1 E",1,"Rare Single Gene Mutation",3,0,8
9,CACNA1F,"calcium channel, voltage-dependent, alpha 1F",X,"Rare Single Gene Mutation, Genetic Association",4,0,7
9,CACNA1G,"calcium channel, voltage-dependent, T type, alpha 1G subunit",17,"Rare Single Gene Mutation, Genetic Association",4,0,18
9,CACNA1I,"Calcium channel, voltage-dependent, T type, alpha 1I subunit",22,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,CACNA2D3,"Calcium channel, voltage-dependent, alpha 2/delta subunit 3",3,"Rare Single Gene Mutation",2,0,5
9,CAMK2A,"calcium/calmodulin dependent protein kinase II alpha",5,"Rare Single Gene Mutation, Functional",4,0,2
9,CAMK4,"Calcium/calmodulin-dependent protein kinase IV",5,"Genetic Association",4,0,1
9,CAPN12,"Calpain 12",19,"Rare Single Gene Mutation",4,0,4
9,CAPRIN1,"Cell cycle associated protein 1",11,"Rare Single Gene Mutation, Functional",3,0,3
9,CARD11,"caspase recruitment domain family member 11Â ",7,"Rare Single Gene Mutation",4,0,1
9,CASC4,"cancer susceptibility candidate 4",15,"Rare Single Gene Mutation",4,0,4
9,CBLN1,"cerebellin 1 precursor",16,"Genetic Association, Functional",5,0,6
9,CCDC64,"coiled-coil domain containing 64",12,"Genetic Association",4,0,2
9,CCDC88C,"Coiled-coil domain containing 88C",14,"Rare Single Gene Mutation",4,0,4
9,CCDC91,"coiled-coil domain containing 91Â ",12,"Rare Single Gene Mutation",4,0,3
9,CCT4,"Chaperonin containing TCP1, subunit 4 (delta)Â ",2,"Rare Single Gene Mutation",3,0,3
9,CD276,CD276Â molecule,15,"Rare Single Gene Mutation",4,0,1
9,CD44,"CD44 molecule (Indian blood group)",11,"Rare Single Gene Mutation, Functional",5,0,4
9,CDC42BPB,"CDC42 binding protein kinase beta (DMPK-like)Â ",14,"Rare Single Gene Mutation",3,0,6
9,CDH10,"cadherin 10, type 2 (T2-cadherin)",5,"Rare Single Gene Mutation, Genetic Association",4,0,9
9,CDH22,"cadherin-like 22",20,"Genetic Association",4,0,4
9,CDH8,"cadherin 8, type 2",16,"Rare Single Gene Mutation",4,0,9
9,CDH9,"cadherin 9, type 2 (T1-cadherin)",5,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,CEP135,"centrosomal protein 135",4,"Rare Single Gene Mutation, Syndromic",3,0,6
9,CEP41,"testis specific, 14",7,"Rare Single Gene Mutation",3,0,3
9,CGNL1,"Cingulin-like 1",15,"Rare Single Gene Mutation",3,0,2
9,CHD5,"chromodomain helicase DNA binding protein 5",1,"Rare Single Gene Mutation, Functional",5,0,3
9,CHMP1A,"charged multivesicular body protein 1A",16,"Rare Single Gene Mutation, Syndromic",3,0,5
9,CHST5,"carbohydrate sulfotransferase 5",16,"Rare Single Gene Mutation",6,0,5
9,CIB2,"Calcium and integrin binding family member 2",15,"Rare Single Gene Mutation",3,0,1
9,CLASP1,"cytoplasmic linker associated protein 1",2,"Rare Single Gene Mutation",3,0,3
9,CLN8,"Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)",8,"Rare Single Gene Mutation, Syndromic",4,0,3
9,CLSTN2,"calsyntenin 2",3,"Rare Single Gene Mutation, Functional",5,0,4
9,CLSTN3,"Calsyntenin 3",12,"Rare Single Gene Mutation, Functional",5,0,2
9,CLTCL1,"clathrin, heavy chain-like 1",22,"Rare Single Gene Mutation",4,0,5
9,CNGB3,"cyclic nucleotide gated channel beta 3",8,"Rare Single Gene Mutation",4,0,2
9,CNR2,"Cannabinoid receptor 2 (macrophage)",1,"Rare Single Gene Mutation, Genetic Association, Functional",5,0,4
9,COL28A1,"collagen type XXVIII alpha 1 chain",7,"Rare Single Gene Mutation",4,0,2
9,CPT2,"carnitine palmitoyltransferase 2",1,"Rare Single Gene Mutation",4,0,1
9,CRHR2,"corticotropin releasing hormone receptor 2",7,Functional,5,0,3
9,CSNK1D,"casein kinase 1, delta",17,"Rare Single Gene Mutation",6,0,1
9,CTNND2,"Catenin (cadherin-associated protein), delta 2",5,"Rare Single Gene Mutation",2,0,4
9,CUL3,"Cullin 3",2,"Rare Single Gene Mutation",1,0,13
9,CUL7,"Cullin 7",6,"Rare Single Gene Mutation",3,0,3
9,CUX1,"cut like homeobox 1",7,"Rare Single Gene Mutation, Functional",3,0,3
9,CX3CR1,"Chemokine (C-X3-C motif) receptor 1",3,"Rare Single Gene Mutation, Functional",4,0,3
9,CYLC2,"cylicin, basic protein of sperm head cytoskeleton 2Â ",9,"Rare Single Gene Mutation",4,0,3
9,DAB1,"disabled homolog 1 (Drosophila)",1,"Rare Single Gene Mutation, Functional",5,0,7
9,DAPK1,"death-associated protein kinase 1",9,"Rare Single Gene Mutation, Genetic Association, Functional",5,0,5
9,DAPP1,"Dual adaptor of phosphotyrosine and 3-phosphoinositides",4,"Rare Single Gene Mutation",3,0,1
9,DCTN5,"dynactin 5",16,"Rare Single Gene Mutation",5,0,3
9,DCUN1D1,"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)",3,Functional,5,0,3
9,DDX11,"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11",12,Functional,5,0,3
9,DENR,"density-regulated protein",12,"Rare Single Gene Mutation",3,0,2
9,DGKK,"diacylglycerol kinase kappaÂ ",X,Functional,5,0,1
9,DIP2A,"DIP2 disco-interacting protein 2 homolog A (Drosophila)",21,"Rare Single Gene Mutation",3,0,4
9,DIP2C,"disco interacting protein 2 homolog C",10,"Rare Single Gene Mutation",2,0,2
9,DLGAP2,"discs, large (Drosophila) homolog-associated protein 2",8,"Rare Single Gene Mutation",4,0,12
9,DLX1,"distal-less homeobox 1",2,"Genetic Association",5,0,8
9,DLX2,"distal-less homeobox 2",2,"Genetic Association",4,0,11
9,DLX6,"distal-less homeobox 6",7,"Rare Single Gene Mutation",4,0,9
9,DMXL2,"Dmx-like 2Â ",15,"Rare Single Gene Mutation",4,0,2
9,DNAH17,"dynein axonemal heavy chain 17",17,"Rare Single Gene Mutation",4,0,4
9,DNAH3,"dynein axonemal heavy chain 3",16,"Rare Single Gene Mutation",4,0,3
9,DNAJC19,"DnaJ (Hsp40) homolog, subfamily C, member 19",3,Functional,5,0,1
9,DNER,"Delta/notch-like EGF repeat containing",2,"Rare Single Gene Mutation, Genetic Association",4,0,2
9,DNM1L,"Dynamin 1-like",12,"Rare Single Gene Mutation, Functional",5,0,2
9,DNMT3A,"DNA (cytosine-5-)-methyltransferase 3 alphaÂ ",2,"Rare Single Gene Mutation",3,0,7
9,DOCK1,"Dedicator of cytokinesis 1Â ",10,"Rare Single Gene Mutation",4,0,2
9,DOCK8,"dedicator of cytokinesis 8",9,"Rare Single Gene Mutation",3,0,5
9,DPP10,"Dipeptidyl-peptidase 10",2,"Rare Single Gene Mutation",3,0,11
9,DPP4,"Dipeptidyl-peptidase 4Â ",2,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,DPYD,"dihydropyrimidine dehydrogenase",1,"Rare Single Gene Mutation, Genetic Association",4,0,7
9,DSCAM,"Down syndrome cell adhesion molecule",21,"Rare Single Gene Mutation, Genetic Association",1,0,7
9,DST,Dystonin,6,"Rare Single Gene Mutation",4,0,4
9,DUSP15,"dual specificity phosphatase 15",20,"Rare Single Gene Mutation, Genetic Association",4,0,3
9,DVL1,"Dishevelled segment polarity protein 1",1,Functional,5,0,3
9,DVL3,"Dishevelled segment polarity protein 3",3,"Rare Single Gene Mutation, Functional",4,0,3
9,DYDC1,"DPY30 domain containing 1",10,,4,0,1
9,DYDC2,"DPY30 domain containing 2",10,,4,0,1
9,EFR3A,"EFR3 homolog A (S. cerevisiae)",8,"Rare Single Gene Mutation",3,0,5
9,EGR2,"early growth response 2 (Krox-20 homolog, Drosophila)",10,Functional,5,0,4
9,EIF3G,"eukaryotic translation initiation factor 3 subunit GÂ ",19,"Rare Single Gene Mutation",4,0,3
9,EIF4E,"eukaryotic translation initiation factor 4E",4,"Rare Single Gene Mutation, Genetic Association",4,0,12
9,EIF4EBP2,"Eukaryotic translation initiation factor 4E binding protein 2",10,Functional,5,0,1
9,ELAVL2,"ELAV like neuron-specific RNA binding protein 2",9,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,5
9,ELAVL3,"ELAV like neuron-specific RNA binding protein 3",19,"Rare Single Gene Mutation",3,0,2
9,EML1,"echinoderm microtubule associated protein like 1",14,"Rare Single Gene Mutation",5,0,2
9,EN2,"engrailed homolog 2",7,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,20
9,EP400,"E1A binding protein p400",12,"Rare Single Gene Mutation",3,0,5
9,EPC2,"Enhancer of polycomb homolog 2 (Drosophila)",2,"Rare Single Gene Mutation",4,0,4
9,EPHA6,"EPH receptor A6",3,"Rare Single Gene Mutation",5,0,6
9,EPHB6,"EPH receptor B6",7,"Rare Single Gene Mutation",5,0,5
9,EPPK1,"epiplakin 1",8,"Rare Single Gene Mutation",4,0,2
9,ERBB4,"v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)",2,"Rare Single Gene Mutation",5,0,14
9,ERG,"v-ets erythroblastosis virus E26 oncogene homolog (avian)",21,"Genetic Association",4,0,1
9,ERMN,ermin,2,"Rare Single Gene Mutation",4,0,1
9,ESRRB,"estrogen-related receptor beta",14,"Rare Single Gene Mutation, Genetic Association",4,0,7
9,ETFB,"Electron-transfer-flavoprotein, beta polypeptide",19,"Rare Single Gene Mutation",3,0,3
9,F13A1,"coagulation factor XIII, A1 polypeptide",6,"Rare Single Gene Mutation, Functional",5,0,6
9,FAM47A,"family with sequence similarity 47 member A",X,"Rare Single Gene Mutation",4,0,1
9,FAM92B,"Family with sequence similarity 92, member B",16,"Rare Single Gene Mutation",3,0,2
9,FBXO33,"F-box protein 33",14,"Genetic Association",4,0,3
9,FBXO40,"F-box protein 40",3,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,FCRL6,"Fc receptor like 6",1,"Rare Single Gene Mutation",4,0,4
9,FEZF2,"FEZ family zinc finger 2",3,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,FHIT,"fragile histidine triad gene",3,"Rare Single Gene Mutation, Genetic Association",4,0,11
9,FLT1,"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)",13,"Rare Single Gene Mutation, Functional",5,0,4
9,FOLH1,"Folate hydrolase (prostate-specific membrane antigen) 1",11,Functional,5,0,2
9,FRK,"fyn-related kinase",6,"Rare Single Gene Mutation, Genetic Association",4,0,3
9,GABRA1,"Gamma-aminobutyric acid (GABA) A receptor, alpha 1",5,"Rare Single Gene Mutation, Functional",5,0,6
9,GABRA4,"gamma-aminobutyric acid (GABA) A receptor, alpha 4",4,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,GABRA5,"gamma-aminobutyric acid type A receptor alpha5 subunit",15,"Genetic Association, Functional",5,0,8
9,GABRQ,"Gamma-aminobutyric acid (GABA) A receptor, theta",X,"Rare Single Gene Mutation",5,0,1
9,GAD1,"Glutamate decarboxylase 1 (brain, 67kDa)",2,"Rare Single Gene Mutation, Functional",5,0,5
9,GADD45B,"Growth arrest and DNA-damage-inducible, beta",19,"Rare Single Gene Mutation, Functional",5,0,4
9,GALNT13,"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)",2,"Rare Single Gene Mutation",4,0,4
9,GALNT14,"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)",2,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,GAP43,"Growth associated protein 43",3,Functional,5,0,1
9,GAS2,"Growth arrest-specific 2",11,"Genetic Association",4,0,1
9,GIGYF1,"GRB10 interacting GYF protein 1",7,"Rare Single Gene Mutation",3,0,3
9,GIGYF2,"GRB10 interacting GYF protein 2",2,"Rare Single Gene Mutation",2,0,7
9,GLIS1,"GLIS family zinc finger 1",1,"Genetic Association",4,0,1
9,GLO1,"glyoxalase I",6,"Genetic Association",4,0,9
9,GNA14,"Guanine nucleotide binding protein (G protein), alpha 14",9,"Rare Single Gene Mutation",6,0,1
9,GNB1L,"guanine nucleotide binding protein (G protein), beta polypeptide 1-like",22,"Rare Single Gene Mutation, Genetic Association",4,0,2
9,GPC4,"glypican 4",X,"Rare Single Gene Mutation",3,0,1
9,ERBIN,"erbb2 interacting protein",5,"Rare Single Gene Mutation",2,0,5
9,CD99L2,"CD99 molecule-like 2",X,"Genetic Association",,0,1
9,DLG1,"Discs, large homolog 1 (Drosophila)",3,"Rare Single Gene Mutation",,0,2
9,GPC6,"glypican 6",13,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,GPR139,"G protein-coupled receptor 139",16,"Rare Single Gene Mutation",5,0,5
9,GPR37,"G protein-coupled receptor 37 (endothelin receptor type B-like)",7,"Rare Single Gene Mutation",4,0,2
9,GPR85,"G protein-coupled receptor 85",7,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,GPX1,"glutathione peroxidase 1",3,"Genetic Association",4,0,5
9,GRIA1,"glutamate ionotropic receptor AMPA type subunit 1",5,"Rare Single Gene Mutation",2,0,4
9,GRID1,"Glutamate receptor, ionotropic, delta 1",10,"Rare Single Gene Mutation, Genetic Association",,0,6
9,GRID2,"glutamate receptor, ionotropic, delta 2",4,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,9
9,GRIK4,"Glutamate receptor, ionotropic, kainate 4",11,"Rare Single Gene Mutation, Functional",5,0,3
9,GRIK5,"Glutamate receptor, ionotropic, kainate 5",19,"Rare Single Gene Mutation",3,0,6
9,GRIP1,"glutamate receptor interacting protein 1",12,"Rare Single Gene Mutation",2,0,12
9,GRM1,"Glutamate receptor, metabotropic 1",6,"Rare Single Gene Mutation, Genetic Association",,0,6
9,GRM4,"Glutamate receptor, metabotropic 4",6,Functional,5,0,1
9,GRM5,"Glutamate receptor, metabotropic 5",11,"Rare Single Gene Mutation, Genetic Association, Functional",,0,5
9,GRM7,"Glutamate receptor, metabotropic 7",3,"Rare Single Gene Mutation, Genetic Association",4,0,13
9,GRM8,"glutamate receptor, metabotropic 8",7,"Rare Single Gene Mutation, Genetic Association",6,0,7
9,GSK3B,"Glycogen synthase kinase 3 beta",3,"Rare Single Gene Mutation, Functional",5,0,4
9,GSTM1,"glutathione S-transferase M1",1,"Genetic Association",4,0,3
9,GTF2I,"general transcription factor IIi",7,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,GUCY1A2,"Guanylate cyclase 1, soluble, alpha 2",11,"Rare Single Gene Mutation, Genetic Association",4,0,2
9,HDAC3,"histone deacetylase 3",5,"Rare Single Gene Mutation, Functional",5,0,5
9,HDC,"histidine decarboxylase",15,"Rare Single Gene Mutation, Functional",5,0,6
9,HECTD4,"HECT domain E3 ubiquitin protein ligase 4",12,"Rare Single Gene Mutation",3,0,3
9,IQSEC2,"IQ motif and Sec7 domain 2",X,"Rare Single Gene Mutation, Syndromic",4,1,15
9,KCNMA1,"potassium large conductance calcium-activated channel, subfamily M, alpha member 1",10,"Rare Single Gene Mutation",4,0,18
9,MACROD2,"MACRO domain containing 2",20,"Rare Single Gene Mutation, Genetic Association",3,0,17
9,PTEN,"phosphatase and tensin homolog (mutated in multiple advanced cancers 1)",10,"Rare Single Gene Mutation, Syndromic",1,1,45
9,ABCA7,"ATP-binding cassette, sub-family A (ABC1), member 7",19,"Rare Single Gene Mutation",,0,2
9,ADARB1,"Adenosine deaminase, RNA-specific, B1",21,"Rare Single Gene Mutation, Functional",,0,2
9,EPS8,"Epidermal growth factor receptor pathway substrate 8",12,Functional,,0,1
9,GRID2IP,"Glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein",7,"Rare Single Gene Mutation",,0,1
9,HSD11B1,"hydroxysteroid (11-beta) dehydrogenase 1",1,Syndromic,4,0,8
9,IL1RAPL1,"interleukin 1 receptor accessory protein-like 1",X,"Rare Single Gene Mutation",4,0,20
9,KCNQ2,"Potassium voltage-gated channel, KQT-like subfamily, member 2",20,"Rare Single Gene Mutation, Genetic Association",3,0,15
9,KCNQ3,"Potassium voltage-gated channel, KQT-like subfamily, member 3",8,"Rare Single Gene Mutation, Genetic Association",3,0,7
9,KIAA2022,KIAA2022,X,"Rare Single Gene Mutation, Syndromic",3,0,15
9,MBOAT7,"membrane bound O-acyltransferase domain containing 7",19,"Rare Single Gene Mutation, Syndromic",2,1,2
9,MECP2,"Methyl CpG binding protein 2",X,"Rare Single Gene Mutation, Syndromic, Functional",2,1,64
9,NF1,"neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)",17,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,21
9,NLGN4X,"neuroligin 4, X-linked",X,"Rare Single Gene Mutation, Genetic Association",3,0,28
9,NR2F1,"nuclear receptor subfamily 2 group F member 1",5,"Rare Single Gene Mutation, Syndromic",4,1,10
9,ALDH1A3,"Aldehyde dehydrogenase 1 family, member A3",15,"Rare Single Gene Mutation, Syndromic",,0,5
9,IMMP2L,"IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)",7,"Rare Single Gene Mutation, Genetic Association",5,0,10
9,KHDRBS2,"KH domain containing, RNA binding, signal transduction associated 2",6,"Rare Single Gene Mutation",4,0,2
9,MAOA,"monoamine oxidase A",X,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,13
9,MBD5,"Methyl-CpG binding domain protein 5",2,"Rare Single Gene Mutation, Syndromic",3,1,29
9,MEF2C,"myocyte enhancer factor 2C",5,"Rare Single Gene Mutation, Syndromic, Functional",4,1,26
9,NRXN1,"neurexin 1",2,"Rare Single Gene Mutation, Syndromic, Genetic Association",2,0,69
9,OPHN1,"oligophrenin 1",X,"Rare Single Gene Mutation",3,0,10
9,OXTR,"oxytocin receptor",3,"Rare Single Gene Mutation, Genetic Association, Functional",3,0,39
9,PIK3CG,"phosphoinositide-3-kinase, catalytic, gamma polypeptide",7,"Genetic Association",4,0,4
9,PPP1R3F,"protein phosphatase 1, regulatory (inhibitor) subunit 3F",X,"Rare Single Gene Mutation",5,0,3
9,PRKDC,"protein kinase, DNA-activated, catalytic polypeptide",8,"Rare Single Gene Mutation, Syndromic, Functional",4,0,4
9,PSMD10,"proteasome (prosome, macropain) 26S subunit, non-ATPase, 10",X,"Rare Single Gene Mutation",5,0,6
9,PSMD12,"proteasome 26S subunit, non-ATPase 12",17,Syndromic,,1,1
9,QRICH1,"glutamine rich 1",3,"Rare Single Gene Mutation",4,0,2
9,RAI1,"retinoic acid induced 1",17,"Rare Single Gene Mutation, Syndromic",,1,17
9,ACY1,"Aminoacylase 1",3,Syndromic,,0,5
9,ANK3,"Ankyrin 3, node of Ranvier (ankyrin G)",10,"Rare Single Gene Mutation, Genetic Association",,0,23
9,CNTN3,"contactin 3 (plasmacytoma associated)",3,"Rare Single Gene Mutation",,0,5
9,CSMD1,"CUB and Sushi multiple domains 1",8,"Rare Single Gene Mutation, Genetic Association",,0,10
9,DEPDC5,"DEP domain containing 5",22,"Rare Single Gene Mutation, Syndromic",,0,3
9,HOXA1,"homeobox A1",7,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,15
9,ICA1,"islet cell autoantigen 1, 69kDa",7,"Rare Single Gene Mutation",4,0,4
9,KAT6A,"K(lysine) acetyltransferase 6A",8,"Rare Single Gene Mutation, Syndromic",3,1,7
9,MAGEL2,"MAGE-like 2",15,"Rare Single Gene Mutation, Syndromic",2,1,10
9,MED12,"mediator complex subunit 12",X,"Rare Single Gene Mutation, Syndromic, Genetic Association",6,0,18
9,MTOR,"Mechanistic target of rapamycin (serine/threonine kinase)",1,"Rare Single Gene Mutation, Functional",3,0,11
9,MYT1L,"Myelin transcription factor 1-like",2,"Rare Single Gene Mutation, Syndromic, Genetic Association",1,0,14
9,NLGN1,"neuroligin 1",3,"Rare Single Gene Mutation, Genetic Association",3,0,17
9,NRXN2,"neurexin 2",11,"Rare Single Gene Mutation",4,0,6
9,NRXN3,"neurexin 3",14,"Rare Single Gene Mutation, Genetic Association",3,0,15
9,OXT,"oxytocin/neurophysin I prepropeptide",20,"Genetic Association",4,0,4
9,CACNA1A,"Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit",19,"Rare Single Gene Mutation, Genetic Association",,0,10
9,CD38,"CD38 molecule",4,"Genetic Association, Functional",,0,6
9,DCX,"doublecortex, lissencephaly, X-linked (doublecortin)",X,"Rare Single Gene Mutation",,0,7
9,HRAS,"v-Ha-ras Harvey rat sarcoma viral oncogene homolog",11,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,11
9,JMJD1C,"jumonji domain containing 1C",10,"Rare Single Gene Mutation",4,0,7
9,KDM5B,"Lysine (K)-specific demethylase 5B",1,"Rare Single Gene Mutation",2,0,9
9,NSD1,"nuclear receptor binding SET domain protein 1",5,"Rare Single Gene Mutation, Syndromic",,1,12
9,NXPH1,"neurexophilin 1",7,"Rare Single Gene Mutation",4,0,4
9,PAH,"Phenylalanine hydroxylase",12,"Rare Single Gene Mutation, Syndromic",3,0,2
9,PARK2,"Parkinson disease (autosomal recessive, juvenile) 2, parkin",6,"Rare Single Gene Mutation, Genetic Association",3,0,14
9,PCCA,"propionyl-CoA carboxylase alpha subunit",13,Syndromic,,1,9
9,PCCB,"propionyl-CoA carboxylase beta subunit",3,Syndromic,,1,7
9,PCDH19,"protocadherin 19",X,"Rare Single Gene Mutation, Syndromic",,1,22
9,PHIP,"pleckstrin homology domain interacting protein",6,"Rare Single Gene Mutation",4,0,7
9,PSD3,"pleckstrin and Sec7 domain containing 3",8,"Rare Single Gene Mutation",4,0,4
9,PTCHD1,"patched domain containing 1",X,"Rare Single Gene Mutation, Genetic Association",2,0,11
9,PTPN11,"protein tyrosine phosphatase, non-receptor type 11",12,"Rare Single Gene Mutation, Syndromic",4,1,10
9,ADAMTS18,"ADAM metallopeptidase with thrombospondin type 1 motif, 18",16,"Rare Single Gene Mutation",,0,2
9,CMIP,"c-Maf inducing protein",16,"Rare Single Gene Mutation, Genetic Association",,0,6
9,DOCK10,"Dedicator of cytokinesis 10",2,"Rare Single Gene Mutation",,0,1
9,FAN1,"FANCD2/FANCI-associated nuclease 1",15,"Rare Single Gene Mutation",,0,1
9,GNAS,"GNAS complex locus",20,"Rare Single Gene Mutation",,0,6
9,KMT2A,"Lysine (K)-specific methyltransferase 2A",11,"Rare Single Gene Mutation, Syndromic",1,1,12
9,KMT2C,"Lysine (K)-specific methyltransferase 2CÂ ",7,"Rare Single Gene Mutation",2,0,10
9,LRFN5,"leucine rich repeat and fibronectin type III domain containing 5",14,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,LRP2,"Low density lipoprotein receptor-related protein 2",2,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,11
9,MED13L,"Mediator complex subunit 13-like",12,"Rare Single Gene Mutation, Syndromic",2,0,18
9,NIPBL,"Nipped-B homolog (Drosophila)",5,"Rare Single Gene Mutation, Syndromic",,1,8
9,NTRK1,"neurotrophic tyrosine kinase, receptor, type 1",1,"Rare Single Gene Mutation, Syndromic",4,0,8
9,NTRK3,"neurotrophic tyrosine kinase, receptor, type 3",15,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,13
9,PAX6,"Paired box 6",11,"Rare Single Gene Mutation, Syndromic, Functional",,1,6
9,PLCB1,"phospholipase C, beta 1 (phosphoinositide-specific)",20,"Rare Single Gene Mutation",3,0,7
9,POGZ,"Pogo transposable element with ZNF domain",1,"Rare Single Gene Mutation, Syndromic",1,1,21
9,POU3F2,"POU class 3 homeobox 2",6,"Rare Single Gene Mutation, Functional",5,0,3
9,PPM1D,"protein phosphatase, Mg2+/Mn2+ dependent 1D",17,"Rare Single Gene Mutation, Syndromic",,1,3
9,PPP2R5D,"Protein phosphatase 2, regulatory subunit B', delta",6,"Rare Single Gene Mutation, Syndromic",4,1,9
9,PRICKLE1,"Prickle homolog 1 (Drosophila)",12,"Rare Single Gene Mutation, Syndromic, Functional",3,0,4
9,PRICKLE2,"Prickle homolog 2 (Drosophila)",3,"Rare Single Gene Mutation, Functional",3,0,3
9,APP,"Amyloid beta (A4) precursor protein",21,Functional,,0,3
9,ARHGAP11B,"Rho GTPase activating protein 11B",15,"Rare Single Gene Mutation",,0,1
9,BBS4,"Bardet-Biedl syndrome 4",15,"Rare Single Gene Mutation, Syndromic",,0,3
9,CDH11,"Cadherin 11, type 2, OB-cadherin (osteoblast)",16,"Rare Single Gene Mutation",,0,3
9,CYFIP1,"cytoplasmic FMR1 interacting protein 1",15,"Rare Single Gene Mutation, Genetic Association",,0,13
9,DOLK,"Dolichol kinase",9,Syndromic,,0,1
9,EXOC3,"Exocyst complex component 3",5,"Rare Single Gene Mutation",,0,1
9,EXOC5,"Exocyst complex component 5",14,"Rare Single Gene Mutation",,0,2
9,EXOC6,"Exocyst complex component 6",10,"Rare Single Gene Mutation",,0,1
9,EXOC6B,"Exocyst complex component 6B",2,"Rare Single Gene Mutation",,0,3
9,FGA,"Fibrinogen alpha chain",4,"Genetic Association",,0,1
9,GAN,Gigaxonin,16,"Rare Single Gene Mutation",,0,1
9,GPD2,"Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)",2,"Rare Single Gene Mutation, Genetic Association",,0,4
9,HCFC1,"Host cell factor C1 (VP16-accessory protein)",X,"Rare Single Gene Mutation, Syndromic",,0,7
9,HNRNPH2,"heterogeneous nuclear ribonucleoprotein H2 (H')",X,"Rare Single Gene Mutation",4,0,4
9,HNRNPU,"heterogeneous nuclear ribonucleoprotein U",1,"Rare Single Gene Mutation, Syndromic",4,1,9
9,ITPR1,"inositol 1,4,5-trisphosphate receptor type 1",3,"Rare Single Gene Mutation",4,0,8
9,KCNB1,"potassium voltage-gated channel subfamily B member 1",20,"Rare Single Gene Mutation, Syndromic",,1,2
9,KCNJ10,"Potassium inwardly-rectifying channel, subfamily J, member 10",1,"Rare Single Gene Mutation, Syndromic, Genetic Association",3,0,10
9,KCNT1,"Potassium channel, subfamily T, member 1",9,"Rare Single Gene Mutation, Syndromic",5,0,9
9,KDM5C,"Lysine (K)-specific demethylase 5C",X,"Rare Single Gene Mutation, Syndromic",3,0,20
9,KDM6B,"Lysine (K)-specific demethylase 6B",17,"Rare Single Gene Mutation",3,0,7
9,MDGA2,"MAM domain containing glycosylphosphatidylinositol anchor 2",14,"Rare Single Gene Mutation, Genetic Association",4,0,7
9,MTF1,"metal-regulatory transcription factor 1",1,"Syndromic, Genetic Association",4,0,4
9,MTHFR,"methylenetetrahydrofolate reductase (NAD(P)H)",1,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,0,15
9,NACC1,"nucleus accumbens associated 1",19,"Rare Single Gene Mutation, Syndromic",4,1,3
9,NFIA,"nuclear factor I/A",1,"Rare Single Gene Mutation",4,0,8
9,NFIX,"nuclear factor I/X (CCAAT-binding transcription factor)",19,"Rare Single Gene Mutation, Syndromic",,1,6
9,PACS1,"phosphofurin acidic cluster sorting protein 1",11,"Rare Single Gene Mutation, Syndromic",,1,6
9,PCDH9,"protocadherin 9",13,"Rare Single Gene Mutation",4,0,6
9,PDZD4,"PDZ domain containing 4",X,"Rare Single Gene Mutation",5,0,3
9,PIK3R2,"Phosphoinositide-3-kinase, regulatory subunit 2 (beta)",19,"Rare Single Gene Mutation, Syndromic",,1,3
9,PRKD1,"Protein kinase D1",14,"Rare Single Gene Mutation, Syndromic",,1,4
9,PRODH,"Proline dehydrogenase (oxidase) 1",22,"Syndromic, Genetic Association",3,1,6
9,RAB39B,"RAB39B, member RAS oncogene family",X,"Rare Single Gene Mutation",4,0,8
9,ADORA3,"Adenosine A3 receptor",1,"Rare Single Gene Mutation, Functional",,0,2
9,CACNA1B,"Calcium channel, voltage-dependent, N type, alpha 1B subunit",9,"Rare Single Gene Mutation, Genetic Association",,0,6
9,CADM2,"Cell adhesion molecule 2",3,"Genetic Association",,0,3
9,CECR2,"Cat eye syndrome chromosome region, candidate 2",22,"Rare Single Gene Mutation",,0,2
9,CELF6,"CUGBP, Elav-like family member 6",15,"Genetic Association",,0,1
9,CHRM3,"Cholinergic receptor, muscarinic 3",1,"Rare Single Gene Mutation",,0,3
9,DLGAP1,"Discs, large (Drosophila) homolog-associated protein 1",18,"Rare Single Gene Mutation",,0,5
9,DLGAP3,"Discs, large (Drosophila) homolog-associated protein 3",1,"Rare Single Gene Mutation, Genetic Association, Functional",,0,7
9,DRD2,"Dopamine receptor D2",11,"Rare Single Gene Mutation, Genetic Association",,0,5
9,FAM135B,"Family with sequence similarity 135, member B",8,"Rare Single Gene Mutation, Genetic Association",,0,2
9,FBXO15,"F-box protein 15",18,"Rare Single Gene Mutation",,0,3
9,GABRA3,"Gamma-aminobutyric acid (GABA) A receptor, alpha 3",X,"Rare Single Gene Mutation",,0,1
9,GRIK3,"Glutamate receptor, ionotropic, kainate 3",1,"Rare Single Gene Mutation",,0,2
9,HDAC6,"Histone deacetylase 6",X,"Rare Single Gene Mutation",,0,2
9,HIVEP3,"human immunodeficiency virus type I enhancer binding protein 3Â ",1,"Rare Single Gene Mutation, Genetic Association",3,0,4
9,HLA-A,"major histocompatibility complex, class I, A",6,"Genetic Association",4,0,8
9,HLA-B,"Major histocompatibility complex, class I, B",6,"Genetic Association",4,0,3
9,HMGN1,"high mobility group nucleosome binding domain 1",21,"Genetic Association",3,0,1
9,HOMER1,"Homer homolog 1 (Drosophila)",5,"Rare Single Gene Mutation, Functional",4,0,5
9,HOXB1,"homeobox B1",17,"Rare Single Gene Mutation, Genetic Association",5,0,8
9,HS3ST5,"heparan sulfate (glucosamine) 3-O-sulfotransferase 5",6,"Genetic Association",4,0,6
9,HTR1B,"5-hydroxytryptamine (serotonin) receptor 1B",6,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,HTR2A,"5-hydroxytryptamine (serotonin) receptor 2A",13,"Rare Single Gene Mutation, Genetic Association",5,0,9
9,HTR3A,"5-hydroxytryptamine (serotonin) receptor 3A",11,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,7
9,HTR3C,"5-hydroxytryptamine (serotonin) receptor 3, family member C",3,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,HTR7,"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)",10,"Rare Single Gene Mutation, Genetic Association",6,0,5
9,HYDIN,"HYDIN, axonemal central pair apparatus protein",16,"Rare Single Gene Mutation",4,0,2
9,IFNG,"interferon gamma",12,Functional,5,0,13
9,IFNGR1,"interferon gamma receptor 1",6,Functional,5,0,1
9,IL17A,"Interleukin 17A",6,Functional,5,0,1
9,IL1R2,"interleukin 1 receptor, type II",2,"Rare Single Gene Mutation",4,0,6
9,IL1RAPL2,"interleukin 1 receptor accessory protein-like 2",X,"Rare Single Gene Mutation, Genetic Association",4,0,2
9,IL6,"interleukin 6",7,Functional,5,0,5
9,ILF2,"Interleukin enhancer binding factor 2Â ",1,"Rare Single Gene Mutation",2,0,4
9,INPP1,"inositol polyphosphate-1-phosphatase",2,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,INTS6,"Integrator complex subunit 6",13,"Rare Single Gene Mutation",2,0,4
9,IQGAP3,"IQ motif containing GTPase activating protein 3",1,"Rare Single Gene Mutation",4,0,2
9,IRF2BPL,"Interferon regulatory factor 2 binding protein-likeÂ ",14,"Rare Single Gene Mutation",2,0,3
9,ITGA4,"integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)",2,"Genetic Association",5,0,5
9,ITGB3,"integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)",17,"Rare Single Gene Mutation, Genetic Association",3,0,12
9,ITGB7,"integrin, beta 7",12,"Rare Single Gene Mutation, Functional",5,0,4
9,JAKMIP1,"Janus kinase and microtubule interacting protein 1Â ",4,"Rare Single Gene Mutation, Functional",5,0,7
9,KAT2B,"K(lysine) acetyltransferase 2BÂ ",3,"Rare Single Gene Mutation",2,0,5
9,KATNAL1,"katanin catalytic subunit A1 like 1",13,"Rare Single Gene Mutation, Functional",4,0,2
9,KATNAL2,"Katanin p60 subunit A-like 2",18,"Rare Single Gene Mutation",1,0,7
9,KCNK7,"potassium two pore domain channel subfamily K member 7",11,"Rare Single Gene Mutation",4,0,1
9,KCTD13,"Potassium channel tetramerisation domain containing 13",16,"Rare Single Gene Mutation",4,0,4
9,KDM4B,"lysine demethylase 4B",19,"Rare Single Gene Mutation, Functional",4,0,3
9,KDM6A,"lysine demethylase 6A",X,"Rare Single Gene Mutation, Syndromic",2,0,6
9,KHDRBS3,"KH RNA binding domain containing, signal transduction associated 3",8,Functional,5,0,2
9,ACTN4,"Actinin, alpha 4",19,"Rare Single Gene Mutation",,0,3
9,ANKS1B,"Ankyrin repeat and sterile alpha motif domain containing 1B",12,"Rare Single Gene Mutation",,0,1
9,BCAS1,"Breast carcinoma amplified sequence 1",20,"Rare Single Gene Mutation",,0,2
9,BDNF,"Brain-derived neurotrophic factorÂ ",11,"Rare Single Gene Mutation, Functional",,0,10
9,BIRC6,"Baculoviral IAP repeat containing 6",2,"Rare Single Gene Mutation",,0,6
9,CHRNB3,"Cholinergic receptor, nicotinic, beta 3 (neuronal)",8,"Rare Single Gene Mutation",,0,1
9,CNTNAP3,"contactin associated protein-like 3",9,"Rare Single Gene Mutation",,0,1
9,DAGLA,"Diacylglycerol lipase, alpha",11,"Rare Single Gene Mutation, Functional",,0,2
9,DDC,"Dopa decarboxylase (aromatic L-amino acid decarboxylase)",7,"Genetic Association",,0,2
9,DGKZ,"Diacylglycerol kinase, zeta",11,"Rare Single Gene Mutation",,0,2
9,DNAH10,"Dynein, axonemal, heavy chain 10",12,"Rare Single Gene Mutation",,0,5
9,DOCK4,"Dedicator of cytokinesis 4",7,"Rare Single Gene Mutation, Genetic Association",,0,8
9,DRD1,"Dopamine receptor D1",5,"Genetic Association, Functional",,0,4
9,EPHB2,"EPH receptor B2",1,"Rare Single Gene Mutation",,0,3
9,FAT1,"FAT tumor suppressor homolog 1 (Drosophila)",4,"Rare Single Gene Mutation",,0,4
9,FER,"Fer (fps/fes related) tyrosine kinase",5,"Genetic Association",,0,1
9,GDA,"Guanine deaminase",9,"Rare Single Gene Mutation, Genetic Association",,0,2
9,GSN,Gelsolin,9,"Rare Single Gene Mutation",,0,1
9,KIAA1586,KIAA1586,6,"Rare Single Gene Mutation",3,0,3
9,KIRREL3,"Kin of IRRE like 3 (Drosophila)",11,"Rare Single Gene Mutation",3,0,10
9,KLC2,"Kinesin light chain 2",11,"Rare Single Gene Mutation",5,0,2
9,KLF16,"Kruppel like factor 16",19,"Rare Single Gene Mutation",4,0,1
9,KMT2E,"Lysine (K)-specific methyltransferase 2E",7,"Rare Single Gene Mutation",3,0,3
9,KRR1,"KRR1, small subunit (SSU) processome component, homolog (yeast)",12,"Genetic Association",4,0,1
9,KRT26,"keratin 26",17,"Rare Single Gene Mutation",4,0,2
9,LAMA1,"Laminin, alpha 1",18,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,LAMB1,"laminin, beta 1",7,"Rare Single Gene Mutation, Genetic Association",3,0,4
9,LAMC3,"laminin, gamma 3",9,"Rare Single Gene Mutation",5,0,8
9,LEP,Leptin,7,"Rare Single Gene Mutation",4,0,1
9,LILRB2,"leukocyte immunoglobulin like receptor B2",19,"Rare Single Gene Mutation",4,0,2
9,LMX1B,"LIM homeobox transcription factor 1, beta",9,"Genetic Association",3,0,1
9,LRBA,"LPS-responsive vesicle trafficking, beach and anchor containingÂ ",4,"Rare Single Gene Mutation",4,0,3
9,LRFN2,"leucine rich repeat and fibronectin type III domain containing 2",6,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,4
9,LRRC1,"leucine rich repeat containing 1",6,"Genetic Association",4,0,5
9,LZTR1,"Leucine-zipper-like transcription regulator 1",22,"Rare Single Gene Mutation",3,0,2
9,LZTS2,"leucine zipper, putative tumor suppressor 2",10,"Genetic Association",4,0,4
9,MAGED1,"Melanoma antigen family D, 1",X,Functional,5,0,1
9,KMT5B,"lysine methyltransferase 5B",11,"Rare Single Gene Mutation",1,0,8
9,MAL,"mal, T-cell differentiation protein",2,Functional,5,0,2
9,MAP2,"microtubule-associated protein 2",2,"Rare Single Gene Mutation, Functional",5,0,5
9,MAPK1,"Mitogen-activated protein kinase 1",22,"Rare Single Gene Mutation, Functional",5,0,2
9,MAPK3,"mitogen-activated protein kinase 3",16,"Rare Single Gene Mutation",4,0,3
9,MAPK8IP2,"Mitogen-activated protein kinase 8 interacting protein 2",22,Functional,5,0,1
9,MARK1,"MAP/microtubule affinity-regulating kinase 1",1,"Rare Single Gene Mutation, Genetic Association",4,0,10
9,MBD1,"methyl-CpG binding domain protein 1",18,"Rare Single Gene Mutation",4,0,7
9,MBD3,"methyl-CpG binding domain protein 3",19,"Rare Single Gene Mutation",4,0,4
9,MBD4,"methyl-CpG binding domain protein 4",3,"Rare Single Gene Mutation",4,0,6
9,MCM4,"minichromosome maintenance complex component 4Â ",8,"Rare Single Gene Mutation",4,0,2
9,MCPH1,"microcephalin 1",8,"Rare Single Gene Mutation",4,0,14
9,MED13,"mediator complex subunit 13",17,"Rare Single Gene Mutation",2,0,3
9,MEGF10,"multiple EGF like domains 10",5,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,MEGF11,"multiple EGF like domains 11",15,"Rare Single Gene Mutation",4,0,4
9,MET,"met proto-oncogene (hepatocyte growth factor receptor)",7,"Rare Single Gene Mutation, Genetic Association, Functional",2,0,35
9,MFRP,"Membrane frizzled-related proteinÂ ",11,"Rare Single Gene Mutation",3,0,4
9,MIB1,"Mindbomb E3 ubiquitin protein ligase 1",18,"Rare Single Gene Mutation",4,0,4
9,MKL2,"MKL/myocardin-like 2",16,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,MNT,"MAX network transcriptional repressor",17,"Genetic Association",4,0,1
9,MOCOS,"Molybdenum cofactor sulfurase",18,"Rare Single Gene Mutation, Functional",5,0,2
9,MSANTD2,"Myb/SANT DNA binding domain containing 2",11,"Rare Single Gene Mutation",4,0,1
9,MSN,Moesin,X,Functional,5,0,1
9,MSNP1AS,"MoesinÂ pseudogene 1, antisense",5,"Genetic Association, Functional",2,0,11
9,MSR1,"macrophage scavenger receptor 1",8,"Rare Single Gene Mutation",4,0,2
9,MTR,"5-methyltetrahydrofolate-homocysteine methyltransferase",1,"Rare Single Gene Mutation, Functional",5,0,5
9,MTX2,"Metaxin 2",2,Functional,5,0,1
9,MUC12,"mucin 12, cell surface associated",7,"Rare Single Gene Mutation",4,0,2
9,MUC4,"mucin 4, cell surface associated",3,"Rare Single Gene Mutation",4,0,5
9,MYH4,"Myosin, heavy chain 4, skeletal muscle",17,"Rare Single Gene Mutation",4,0,3
9,MYO16,"myosin XVI",13,"Rare Single Gene Mutation, Genetic Association",4,0,7
9,MYO1A,"myosin IA",12,"Rare Single Gene Mutation",5,0,7
9,MYO5A,"myosin VA",15,"Rare Single Gene Mutation, Genetic Association",3,0,4
9,MYO5C,"myosin VC",15,"Rare Single Gene Mutation",4,0,2
9,MYO9B,"Myosin IXB",19,"Rare Single Gene Mutation",3,0,2
9,NAA15,"N(alpha)-acetyltransferase 15, NatA auxiliary subunitÂ ",4,"Rare Single Gene Mutation",1,0,5
9,NAALADL2,"N-acetylated alpha-linked acidic dipeptidase-like 2Â ",3,"Genetic Association",4,0,1
9,NAV2,"neuron navigator 2",11,"Rare Single Gene Mutation",3,0,8
9,NBEA,neurobeachin,13,"Rare Single Gene Mutation",4,0,8
9,NCKAP1,"NCK-associated protein 1",2,"Rare Single Gene Mutation",2,0,6
9,NCKAP5,"NCK-associated protein 5",2,"Rare Single Gene Mutation",4,0,1
9,NCKAP5L,"NCK-associated protein 5-like",12,"Rare Single Gene Mutation",5,0,2
9,NCOR1,"nuclear receptor corepressor 1",17,"Rare Single Gene Mutation",4,0,3
9,NDNL2,"necdin-like 2",15,Functional,4,0,3
9,NDUFA5,"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa",7,"Genetic Association",4,0,3
9,NEFL,"Neurofilament, light polypeptide",8,"Rare Single Gene Mutation, Genetic Association",5,0,2
9,NEO1,"Neogenin 1",15,,4,0,1
9,NINL,Ninein-likeÂ ,20,"Rare Single Gene Mutation",3,0,3
9,NLGN3,"neuroligin 3",X,"Rare Single Gene Mutation",2,0,32
9,NLGN4Y,"neuroligin 4, Y-linked",Y,"Genetic Association",4,0,3
9,NOS1AP,"nitric oxide synthase 1 (neuronal) adaptor protein",1,"Rare Single Gene Mutation",5,0,6
9,NOS2A,"nitric oxide synthase 2A (inducible, hepatocytes)",17,"Genetic Association",5,0,6
9,NPAS2,"neuronal PAS domain protein 2",2,"Genetic Association",4,0,4
9,NR1D1,"nuclear receptor subfamily 1 group D member 1",17,"Rare Single Gene Mutation",4,0,3
9,NR3C2,"Nuclear receptor subfamily 3, group C, member 2",4,"Rare Single Gene Mutation",3,0,3
9,NRCAM,"neuronal cell adhesion molecule",7,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,NRG1,"Neuregulin 1",8,Functional,5,0,4
9,NRP2,"neuropilin 2",2,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,NTNG1,"netrin G1",1,"Rare Single Gene Mutation, Syndromic, Genetic Association",4,1,8
9,NUAK1,"NUAK family, SNF1-like kinase, 1",12,"Rare Single Gene Mutation",3,0,5
9,NUP133,"nucleoporin 133kDa",1,"Rare Single Gene Mutation",4,0,4
9,OCRL,"oculocerebrorenal syndrome of Lowe",X,Syndromic,,1,4
9,ODF3L2,"outer dense fiber of sperm tails 3-like 2",19,"Rare Single Gene Mutation",4,0,1
9,OFD1,"OFD1, centriole and centriolar satellite protein",X,"Rare Single Gene Mutation",4,0,2
9,OPRM1,"opioid receptor, mu 1",6,Functional,5,0,4
9,OR1C1,"olfactory receptor, family 1, subfamily C, member 1",1,"Rare Single Gene Mutation",4,0,2
9,OR2M4,"Olfactory receptor, family 2, subfamily M, member 4",1,"Genetic Association",4,0,1
9,OR2T10,"olfactory receptor family 2 subfamily T member 10Â ",1,"Rare Single Gene Mutation",4,0,3
9,OR52M1,"Olfactory receptor, family 52, subfamily M, member 1Â ",11,"Rare Single Gene Mutation",3,0,2
9,OTX1,"Orthodenticle homeobox 1",2,"Genetic Association",4,0,3
9,P2RX4,"Purinergic receptor P2X, ligand-gated ion channel, 4",12,Functional,5,0,1
9,P2RX5,"Purinergic receptor P2X, ligand gated ion channel, 5",17,"Rare Single Gene Mutation",3,0,2
9,P4HA2,"Prolyl 4-hydroxylase, alpha polypeptide II",5,"Rare Single Gene Mutation",3,0,4
9,PAFAH1B1,"Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)",17,Functional,5,0,2
9,PARD3B,"Par-3 partitioning defective 3 homolog B (C. elegans)",2,"Rare Single Gene Mutation, Genetic Association",3,0,6
9,PAX5,"Paired box 5",9,"Rare Single Gene Mutation",3,0,4
9,PCDH10,"protocadherin 10",4,"Rare Single Gene Mutation",4,0,7
9,PCDH11X,"protocadherin 11 X-linked",X,"Rare Single Gene Mutation",4,0,2
9,PCDH15,"Protocadherin-related 15",10,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,PCDHGA11,"protocadherin gamma subfamily A, 11",5,"Rare Single Gene Mutation",5,0,1
9,PDCD1,"programmed cell death 1",2,"Rare Single Gene Mutation",4,0,3
9,PDE4B,"phosphodiesterase 4B, cAMP-specific",1,"Rare Single Gene Mutation, Functional",5,0,4
9,PECR,"peroxisomal trans-2-enoyl-CoA reductase",2,"Rare Single Gene Mutation",5,0,2
9,PER1,"period homolog 1 (Drosophila)",17,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,PER2,"period circadian clock 2",2,"Rare Single Gene Mutation",3,0,2
9,PGLYRP2,"peptidoglycan recognition protein 2",19,"Rare Single Gene Mutation, Functional",5,0,3
9,PHB,prohibitin,17,"Genetic Association",3,0,1
9,PHF2,"PHD finger protein 2",9,"Rare Single Gene Mutation",3,0,5
9,PHF3,"PHD finger protein 3",6,"Rare Single Gene Mutation",2,0,2
9,PHRF1,"PHD and ring finger domains 1Â ",11,"Rare Single Gene Mutation",3,0,4
9,PINX1,"PIN2/TERF1 interacting, telomerase inhibitor 1",8,"Rare Single Gene Mutation",5,0,5
9,PITX1,"paired-like homeodomain 1",5,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,PLCD1,"phospholipase C, delta 1",3,"Rare Single Gene Mutation",5,0,9
9,PLN,phospholamban,6,"Rare Single Gene Mutation",4,0,4
9,PLXNA3,"plexin A3",X,"Rare Single Gene Mutation",4,0,2
9,PLXNA4,"Plexin A4",7,"Rare Single Gene Mutation, Functional",3,0,3
9,PLXNB1,"plexin B1",3,"Rare Single Gene Mutation",3,0,3
9,POLA2,"DNA polymerase alpha 2, accessory subunit",11,"Rare Single Gene Mutation",4,0,2
9,POMT1,"protein O-mannosyltransferase 1",9,"Rare Single Gene Mutation",4,0,2
9,PON1,"paraoxonase 1",7,"Genetic Association",3,0,5
9,PPP1R1B,"Protein phosphatase 1, regulatory (inhibitor) subunit 1B",17,"Genetic Association",4,0,1
9,PPP2R1B,"protein phosphatase 2 regulatory subunit A, beta",11,"Rare Single Gene Mutation",4,0,4
9,PREX1,"Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1Â ",20,"Genetic Association",3,0,1
9,PRKCB,"protein kinase C, beta",16,"Rare Single Gene Mutation, Genetic Association",3,0,5
9,PRPF39,"pre-mRNA processing factor 39",14,"Rare Single Gene Mutation",4,0,3
9,PTBP2,"polypyrimidine tract binding protein 2",1,"Rare Single Gene Mutation",4,0,3
9,PTGS2,"prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)",1,"Genetic Association",4,0,5
9,PTK7,"Protein tyrosine kinase 7 (inactive)Â ",6,"Rare Single Gene Mutation",3,0,4
9,PVALB,Parvalbumin,22,Functional,5,0,2
9,PYHIN1,"Pyrin and HIN domain family, member 1",1,"Rare Single Gene Mutation",3,0,4
9,RAB2A,"RAB2A, member RAS oncogene family",8,"Rare Single Gene Mutation",3,0,8
9,RAD21L1,"RAD21 cohesin complex component like 1",20,"Rare Single Gene Mutation",4,0,2
9,RIT2,"Ras-like without CAAX 2",18,"Genetic Association",4,0,3
9,RPS6KA3,"Ribosomal protein S6 kinase, 90kDa, polypeptide 3",X,"Rare Single Gene Mutation, Syndromic",4,1,9
9,SBF1,"SET binding factor 1",22,"Rare Single Gene Mutation",3,0,6
9,SETBP1,"SET binding protein 1",18,"Rare Single Gene Mutation, Syndromic",3,0,10
9,SHANK2,"SH3 and multiple ankyrin repeat domains 2",11,"Rare Single Gene Mutation, Syndromic, Functional",2,0,23
9,SLC45A1,"solute carrier family 45 member 1",1,"Rare Single Gene Mutation, Syndromic",,1,2
9,SMARCC2,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2",12,"Rare Single Gene Mutation, Syndromic, Functional",2,0,8
9,TRAPPC9,"trafficking protein particle complex 9",8,"Rare Single Gene Mutation",3,0,9
9,TSC2,"tuberous sclerosis 2",16,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,23
9,NIPA1,"non imprinted in Prader-Willi/Angelman syndrome 1",15,"Rare Single Gene Mutation",,0,3
9,NIPA2,"non imprinted in Prader-Willi/Angelman syndrome 2",15,"Rare Single Gene Mutation",,0,2
9,PTGER3,"Prostaglandin E receptor 3 (subtype EP3)",1,"Rare Single Gene Mutation",,0,1
9,RELN,Reelin,7,"Rare Single Gene Mutation, Syndromic, Genetic Association, Functional",1,0,41
9,SCN1A,"sodium channel, voltage-gated, type I, alpha subunit",2,"Rare Single Gene Mutation, Syndromic, Genetic Association",3,1,41
9,SLC12A5,"Solute carrier family 12 (potassium/chloride transporter), member 5Â ",20,"Rare Single Gene Mutation",3,0,4
9,SLC1A1,"solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1",9,"Rare Single Gene Mutation, Genetic Association",4,0,11
9,SLC1A2,"Solute carrier family 1 (glial high affinity glutamate transporter), member 2",11,"Rare Single Gene Mutation, Genetic Association, Functional",,1,6
9,SLC25A12,"solute carrier family 25 (mitochondrial carrier, Aralar), member 12",2,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,20
9,SLITRK5,"SLIT and NTRK-like family, member 5",13,"Rare Single Gene Mutation, Functional",,0,8
9,SMG6,"Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)",17,"Rare Single Gene Mutation",,0,2
9,TBR1,"T-box, brain, 1",2,"Rare Single Gene Mutation, Genetic Association",1,0,19
9,TPH2,"tryptophan hydroxylase 2",12,"Rare Single Gene Mutation, Genetic Association",6,0,12
9,TRIP12,"Thyroid hormone receptor interactor 12",2,"Rare Single Gene Mutation, Syndromic",1,1,13
9,TSC1,"tuberous sclerosis 1",9,"Rare Single Gene Mutation, Syndromic",,1,16
9,TTN,titin,2,"Rare Single Gene Mutation, Syndromic",4,0,14
9,UBL7,"ubiquitin-like 7 (bone marrow stromal cell-derived)",15,"Rare Single Gene Mutation",6,0,1
9,WDFY3,"WD repeat and FYVE domain containing 3",4,"Rare Single Gene Mutation, Functional",2,0,11
9,XPO1,"Exportin 1 (CRM1 homolog, yeast)",2,"Rare Single Gene Mutation, Genetic Association",4,0,5
9,HUWE1,"HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase",X,"Rare Single Gene Mutation, Syndromic",,0,8
9,KPTN,"Kaptin (actin binding protein)",19,"Rare Single Gene Mutation",,0,3
9,RERE,"Arginine-glutamic acid dipeptide (RE) repeats",1,"Rare Single Gene Mutation, Syndromic",4,1,4
9,SATB2,"SATB homeobox 2",2,"Rare Single Gene Mutation, Syndromic",4,1,19
9,SCN8A,"sodium channel, voltage gated, type VIII, alpha subunit",12,"Rare Single Gene Mutation, Syndromic",,0,22
9,SCN9A,"sodium voltage-gated channel alpha subunit 9",2,"Rare Single Gene Mutation",2,0,5
9,SEMA5A,"sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A",5,"Rare Single Gene Mutation, Genetic Association, Functional",3,0,15
9,SGSH,"N-sulfoglucosamine sulfohydrolase",17,Syndromic,,1,4
9,SLC4A10,"solute carrier family 4, sodium bicarbonate transporter-like, member 10",2,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,SMARCA2,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",9,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,13
9,SOX5,"SRY (sex determining region Y)-box 5",12,"Rare Single Gene Mutation",,1,10
9,STXBP1,"Syntaxin binding protein 1",9,"Rare Single Gene Mutation, Syndromic",3,1,28
9,SYNGAP1,"synaptic Ras GTPase activating protein 1",6,"Rare Single Gene Mutation, Syndromic",1,1,39
9,TUBGCP5,"tubulin, gamma complex associated protein 5",15,"Rare Single Gene Mutation",,0,4
9,USP7,"Ubiquitin specific peptidase 7 (herpes virus-associated)Â ",16,"Rare Single Gene Mutation, Syndromic",2,0,6
9,ZMYND11,"Zinc finger, MYND-type containing 11",10,"Rare Single Gene Mutation, Syndromic",3,0,9
9,ZNF462,"Zinc finger protein 462",9,"Rare Single Gene Mutation, Syndromic",4,1,6
9,KCND2,"Potassium voltage-gated channel, Shal-related subfamily, member 2",7,"Rare Single Gene Mutation, Genetic Association",,0,4
9,MAOB,"Monoamine oxidase B",X,"Rare Single Gene Mutation, Genetic Association",,0,4
9,MCC,"mutated in colorectal cancers",5,"Rare Single Gene Mutation",,0,4
9,NLGN2,"Neuroligin 2",17,"Rare Single Gene Mutation, Functional",,0,6
9,RBFOX1,"RNA binding protein, fox-1 homolog (C. elegans) 1",16,"Rare Single Gene Mutation, Genetic Association",3,0,32
9,RNPS1,"RNA binding protein S1, serine-rich domain",16,,,0,1
9,RORA,"RAR-related orphan receptor A",15,"Rare Single Gene Mutation, Genetic Association, Functional",5,0,17
9,RPL10,"ribosomal protein L10",X,"Rare Single Gene Mutation, Syndromic",4,0,11
9,SETD2,"SET domain containing 2",3,"Rare Single Gene Mutation",3,0,9
9,SETD5,"SET domain containing 5",3,"Rare Single Gene Mutation, Syndromic",1,1,16
9,SETDB2,"SET domain, bifurcated 2",13,"Rare Single Gene Mutation, Syndromic",4,0,2
9,SLC16A7,"Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)",12,"Rare Single Gene Mutation",5,0,1
9,SLC6A1,"Solute carrier family 6 (neurotransmitter transporter), member 1",3,"Rare Single Gene Mutation, Genetic Association",2,0,15
9,SLC6A4,"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4",17,"Rare Single Gene Mutation, Genetic Association",4,0,25
9,TCF4,"Transcription factor 4",18,"Rare Single Gene Mutation, Syndromic, Genetic Association",,1,32
9,TRAPPC6B,"trafficking protein particle complex 6B",14,"Rare Single Gene Mutation, Syndromic",,1,2
9,TRIO,"TrioÂ Rho guanine nucleotide exchange factorÂ ",5,"Rare Single Gene Mutation",3,0,17
9,UNC80,"unc-80 homolog, NALCN activator",2,"Rare Single Gene Mutation",4,0,4
9,WDR26,"WD repeat domain 26",1,"Rare Single Gene Mutation, Syndromic",,1,2
9,KCNJ2,"Potassium inwardly-rectifying channel, subfamily J, member 2Â ",17,"Rare Single Gene Mutation",,0,1
9,KIF5C,"Kinesin family member 5C",2,"Rare Single Gene Mutation, Syndromic",,0,2
9,KIT,"V-kitÂ Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog",4,Syndromic,,0,1
9,PHF8,"PHD finger protein 8",X,"Rare Single Gene Mutation, Syndromic",,0,7
9,RBM8A,"RNA binding motif protein 8A",1,"Rare Single Gene Mutation, Functional",,0,5
9,ROBO2,"Roundabout, axon guidance receptor, homolog 2 (Drosophila)",3,"Rare Single Gene Mutation, Genetic Association, Functional",3,0,8
9,SCN2A,"sodium channel, voltage-gated, type II, alpha subunit",2,"Rare Single Gene Mutation, Syndromic",1,0,46
9,SH3KBP1,"SH3-domain kinase binding protein 1",X,"Rare Single Gene Mutation",5,0,4
9,SHANK3,"SH3 and multiple ankyrin repeat domains 3",22,"Rare Single Gene Mutation, Syndromic, Genetic Association, Functional",1,1,61
9,SLC6A8,"solute carrier family 6 (neurotransmitter transporter, creatine), member 8",X,"Rare Single Gene Mutation, Syndromic",4,0,9
9,SLC9A6,"solute carrier family 9 (sodium/hydrogen exchanger), member 6",X,"Rare Single Gene Mutation, Syndromic, Functional",,1,11
9,SLC9A9,"solute carrier family 9 (sodium/hydrogen exchanger), member 9",3,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,10
9,SNX14,"Sorting nexin 14",6,"Rare Single Gene Mutation, Syndromic",,1,4
9,ST8SIA2,"ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2",15,"Rare Single Gene Mutation, Genetic Association",,0,7
9,SYN1,"Synapsin 1",X,"Rare Single Gene Mutation, Functional",4,0,16
9,TBL1XR1,"Transducin (beta)-like 1 X-linked receptor 1",3,"Rare Single Gene Mutation, Syndromic",2,0,15
9,TBX1,"T-box 1",22,Syndromic,4,0,1
9,TM4SF20,"Transmembrane 4 L six family member 20",2,"Rare Single Gene Mutation",,0,1
9,TNIP2,"TNFAIP3 interacting protein 2",4,"Rare Single Gene Mutation",5,0,1
9,UPF2,"UPF2 regulator of nonsense transcripts homolog (yeast)",10,"Rare Single Gene Mutation",5,0,4
9,WAC,"WW domain containing adaptor with coiled-coil",10,"Rare Single Gene Mutation, Syndromic",2,1,13
9,WNK3,"WNK lysine deficient protein kinase 3",X,"Rare Single Gene Mutation",4,0,6
9,YY1,"YY1Â transcription factor",14,"Syndromic, Functional",,1,3
9,ZBTB20,"Zinc finger and BTB domain containing 20",3,"Rare Single Gene Mutation, Syndromic",3,1,16
9,JARID2,"Jumonji, AT rich interactive domain 2",6,"Rare Single Gene Mutation, Syndromic, Genetic Association",,0,10
9,KANK1,"KN motif and ankyrin repeat domains 1",9,"Rare Single Gene Mutation",,0,6
9,NXF5,"Nuclear RNA export factor 5",X,"Rare Single Gene Mutation, Functional",,0,4
9,PRUNE2,"prune homolog 2 (Drosophila)",9,"Rare Single Gene Mutation, Syndromic",,0,6
9,RANBP17,"RAN binding protein 17",5,"Rare Single Gene Mutation",2,0,3
9,RAPGEF4,"Rap guanine nucleotide exchange factor (GEF) 4",2,"Rare Single Gene Mutation",4,0,15
9,RB1CC1,"RB1-inducible coiled-coil 1",8,"Rare Single Gene Mutation",5,0,4
9,RBMS3,"RNA binding motif, single stranded interacting protein 3",3,"Rare Single Gene Mutation",5,0,2
9,REEP3,"receptor accessory protein 3",10,"Rare Single Gene Mutation",4,0,3
9,RFWD2,"ring finger and WD repeat domain 2",1,"Rare Single Gene Mutation, Genetic Association",5,0,9
9,RFX3,"regulatory factor X3",9,"Rare Single Gene Mutation",4,0,5
9,RGS7,"regulator of G-protein signaling 7",1,"Rare Single Gene Mutation",4,0,6
9,RHOXF1,"Rhox homeobox family, member 1",X,"Genetic Association",4,0,3
9,RIMS1,"Regulating synaptic membrane exocytosis 1",6,"Rare Single Gene Mutation",2,0,3
9,RIMS3,"regulating synaptic membrane exocytosis 3",1,"Rare Single Gene Mutation",4,0,4
9,RNF135,"Ring finger protein 135Â ",17,"Syndromic, Genetic Association",4,1,2
9,RNF38,"ring finger protein 38",9,"Rare Single Gene Mutation",4,0,2
9,ROBO1,"roundabout, axon guidance receptor, homolog 1 (Drosophila)",3,"Rare Single Gene Mutation, Functional",5,0,10
9,RPS6KA2,"ribosomal protein S6 kinase, 90kDa, polypeptide 2",6,"Rare Single Gene Mutation",4,0,3
9,SCFD2,"sec1 family domain containing 2",4,"Rare Single Gene Mutation",4,0,2
9,SCN4A,"Sodium channel, voltage gated, type IV alpha subunitÂ ",17,"Rare Single Gene Mutation",4,0,3
9,SIN3A,"SIN3 transcription regulator family member AÂ ",15,"Rare Single Gene Mutation, Syndromic",4,1,5
9,STAG1,"stromal antigen 1",3,Syndromic,,1,1
9,SYNE1,"spectrin repeat containing, nuclear envelope 1",6,"Rare Single Gene Mutation, Genetic Association",4,1,14
9,TAF1,"TATA-box binding protein associated factor 1",X,"Rare Single Gene Mutation, Syndromic",,1,3
9,TCF20,"Transcription factor 20 (AR1)",22,"Rare Single Gene Mutation",2,0,8
9,TMLHE,"trimethyllysine hydroxylase, epsilon",X,"Rare Single Gene Mutation, Genetic Association",3,0,5
9,TSPAN7,"tetraspanin 7",X,"Rare Single Gene Mutation",4,0,7
9,UBE3A,"ubiquitin protein ligase E3A",15,"Rare Single Gene Mutation, Syndromic, Genetic Association",3,1,24
9,UBE3B,"ubiquitin protein ligase E3B",12,"Rare Single Gene Mutation, Syndromic",5,0,5
9,VPS13B,"vacuolar protein sorting 13 homolog B (yeast)",8,"Rare Single Gene Mutation, Syndromic",,1,16
9,WNT2,"wingless-type MMTV integration site family member 2",7,"Rare Single Gene Mutation, Genetic Association",5,0,10
9,WWOX,"WW domain containing oxidoreductase",16,"Rare Single Gene Mutation",3,0,7
9,RP11-1407O15.2,,17,"Rare Single Gene Mutation",4,0,1
9,SASH11,"SAM and SH3 domain containing 1",6,"Rare Single Gene Mutation",4,0,2
9,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",6,"Genetic Association",,0,5
9,IL16,"Interleukin 16",15,"Rare Single Gene Mutation",,0,2
9,INADL,"InaD-like (Drosophila)",1,"Rare Single Gene Mutation",,0,2
9,KCNJ15,"Potassium inwardly-rectifying channel, subfamily J, member 15",21,"Rare Single Gene Mutation",,0,2
9,KIF13B,"Kinesin family member 13B",8,"Rare Single Gene Mutation",,0,3
9,KMO,"Kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)",1,Functional,,0,1
9,LIN7B,"Lin-7 homolog B (C. elegans)",19,,,0,1
9,LPL,"Lipoprotein lipase",8,"Rare Single Gene Mutation",,0,1
9,LRP2BP,"LRP2 binding protein",4,"Rare Single Gene Mutation",,0,1
9,LRPPRC,"Leucine-rich pentatricopeptide repeat containing",2,"Rare Single Gene Mutation, Functional",,0,3
9,LRRC7,"Leucine rich repeat containing 7",1,"Rare Single Gene Mutation, Functional",,0,2
9,MC4R,"Melanocortin 4 receptor",18,Functional,,0,2
9,MPP6,"Membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)",7,"Rare Single Gene Mutation",,0,3
9,NELL1,"NEL-like 1 (chicken)",11,"Rare Single Gene Mutation, Genetic Association",,0,2
9,NOS1,"Nitric oxide synthase 1 (neuronal)",12,"Rare Single Gene Mutation",,0,2
9,OGT,"O-linked N-acetylglucosamine (GlcNAc) transferase",X,"Rare Single Gene Mutation, Functional",,0,4
9,PCDH8,"protocadherin 8",13,"Rare Single Gene Mutation",,0,1
9,PCDHA1,"Protocadherin alpha 1",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA10,"Protocadherin alpha 10",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA11,"Protocadherin alpha 11",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHA12,"Protocadherin alpha 12",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA13,"Protocadherin alpha 13",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHA2,"Protocadherin alpha 2",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHA3,"Protocadherin alpha 3",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA4,"Protocadherin alpha 4",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHA5,"Protocadherin alpha 5",5,"Rare Single Gene Mutation, Genetic Association",,0,5
9,PCDHA6,"Protocadherin alpha 6",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA7,"Protocadherin alpha 7",5,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PCDHA8,"Protocadherin alpha 8",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHA9,"Protocadherin alpha 9",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,PCDHAC1,"Protocadherin alpha subfamily C, 1",5,"Genetic Association",,0,2
9,PCDHAC2,"Protocadherin alpha subfamily C, 2",5,"Genetic Association",,0,3
9,PDE1C,"phosphodiesterase 1C, calmodulin-dependent 70kDa",7,"Rare Single Gene Mutation, Genetic Association",,0,2
9,PDE4A,"phosphodiesterase 4A, cAMP-specific",19,"Rare Single Gene Mutation, Functional",,0,2
9,PEX7,"peroxisomal biogenesis factor 7",6,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PLAUR,"Plasminogen activator, urokinase receptor",19,"Genetic Association",,0,1
9,POMGNT1,"Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase",1,"Rare Single Gene Mutation, Syndromic",,0,2
9,PPFIA1,"Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1",11,"Rare Single Gene Mutation",,0,2
9,PRSS38,"Protease, serine, 38",1,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PTPRB,"Protein Tyrosine Phosphatase, Receptor Type, B",12,"Rare Single Gene Mutation, Genetic Association",,0,3
9,PTPRT,"protein tyrosine phosphatase, receptor type, T",20,"Rare Single Gene Mutation",,0,8
9,PXDN,"Peroxidasin homolog (Drosophila)",2,"Rare Single Gene Mutation",,0,3
9,RAB11FIP5,"RAB11 family interacting protein 5",2,"Rare Single Gene Mutation",,0,4
9,RAB19,"RAB19, member RAS oncogene family",7,"Rare Single Gene Mutation",,0,1
9,RAB43,"RAB43, member RAS oncogene family",3,"Rare Single Gene Mutation",,0,2
9,RASD1,"RAS, dexamethasone-induced 1",17,Functional,,0,1
9,RASSF5,"Ras association (RalGDS/AF-6) domain family member 5",1,"Rare Single Gene Mutation, Genetic Association",,0,2
9,RBM27,"RNA binding motif protein 27",5,"Rare Single Gene Mutation",,0,2
9,RLIM,"Ring finger protein, LIM domain interacting",X,"Rare Single Gene Mutation, Syndromic",,0,2
9,RPP25,"Ribonuclease P/MRP 25kDa subunit",15,Functional,,0,1
9,SCN5A,"Sodium channel, voltage-gated, type V, alpha subunit",3,"Rare Single Gene Mutation",,0,2
9,SCP2,"sterol carrier protein 2",1,"Rare Single Gene Mutation",4,0,2
9,SDC2,"syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )",8,"Rare Single Gene Mutation, Genetic Association",4,0,4
9,SDK1,"Sidekick cell adhesion molecule 1",7,"Rare Single Gene Mutation, Genetic Association",,0,4
9,SETDB1,"SET domain, bifurcated 1",1,"Rare Single Gene Mutation",4,0,3
9,SEZ6L2,"SEZ6L2 seizure related 6 homolog (mouse)-like 2",16,"Rare Single Gene Mutation, Genetic Association",4,0,6
9,SGSM3,"Small G protein signaling modulator 3",22,"Rare Single Gene Mutation",4,0,4
9,SHANK1,"SH3 and multiple ankyrin repeat domains 1",19,"Rare Single Gene Mutation",3,0,5
9,SHOX,"short stature homeobox","X,Y","Rare Single Gene Mutation",3,0,2
9,SLC16A3,"solute carrier family 16, member 3 (monocarboxylic acid transporter 4)",17,"Rare Single Gene Mutation",6,0,2
9,SLC22A15,"Solute carrier family 22, member 15",1,"Genetic Association",4,0,1
9,SLC22A9,"solute carrier family 22 member 9",11,"Rare Single Gene Mutation",4,0,3
9,SLC25A14,"Solute carrier family 25 (mitochondrial carrier, brain), member 14",X,Functional,5,0,1
9,UPF3B,"UPF3 regulator of nonsense transcripts homolog B (yeast)",X,"Rare Single Gene Mutation, Syndromic",2,1,12
9,KCNJ12,"Potassium inwardly-rectifying channel, subfamily J, member 12",17,"Rare Single Gene Mutation",,0,1
9,MAPK12,"Mitogen-activated protein kinase 12",22,"Rare Single Gene Mutation",,0,1
9,MBD6,"Methyl-CpG binding domain protein 6",12,"Rare Single Gene Mutation",,0,1
9,POT1,"Protection of telomeres 1 homolog (S. pombe)",7,"Rare Single Gene Mutation",,0,1
9,PTPRC,"protein tyrosine phosphatase, receptor type, C",1,"Rare Single Gene Mutation, Genetic Association",,0,8
9,SAE1,"SUMO1 activating enzyme subunit 1",19,"Rare Single Gene Mutation",,0,3
9,SCN7A,"Sodium channel, voltage-gated, type VII, alpha subunit",2,"Rare Single Gene Mutation",,0,3
9,SLC25A24,"Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24",1,"Rare Single Gene Mutation, Functional",5,0,2
9,SLC25A39,"solute carrier family 25 member 39",17,"Rare Single Gene Mutation",4,0,3
9,SLC27A4,"Solute carrier family 27 (fatty acid transporter), member 4Â ",9,"Rare Single Gene Mutation",4,0,1
9,SLC30A3,"solute carrier family 30 member 3",2,Functional,5,0,2
9,SLC30A5,"solute carrier family 30",5,"Rare Single Gene Mutation",5,0,3
9,SLC33A1,"solute carrier family 33 member 1",3,Functional,5,0,4
9,SLC35B1,"solute carrier family 35 member B1",17,"Genetic Association",3,0,1
9,SLC38A10,"solute carrier family 38, member 10",17,"Rare Single Gene Mutation",3,0,1
9,SLC6A3,"Solute carrier family 6 (neurotransmitter transporter), member 3",5,"Rare Single Gene Mutation, Genetic Association",3,0,11
9,SLC7A3,"Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3",X,"Rare Single Gene Mutation",3,0,2
9,SLC7A5,"solute carrier family 7 member 5",16,Functional,3,0,1
9,SLC7A7,"solute carrier family 7 member 7",14,"Rare Single Gene Mutation",4,0,2
9,SMAD4,"SMAD family member 4",18,"Rare Single Gene Mutation",3,0,3
9,SMARCA4,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4Â ",19,"Rare Single Gene Mutation, Syndromic",3,0,5
9,SMC1A,"structural maintenance of chromosomes 1A",X,Syndromic,,1,3
9,SMC3,"structural maintenance of chromosomes 3Â ",10,"Rare Single Gene Mutation, Syndromic",4,1,6
9,SND1,"staphylococcal nuclease and tudor domain containing 1",7,"Rare Single Gene Mutation, Genetic Association",4,0,8
9,SNRPN,"small nuclear ribonucleoprotein polypeptide N",15,"Rare Single Gene Mutation",5,0,5
9,SNTG2,"Syntrophin, gamma 2",2,"Rare Single Gene Mutation",4,0,5
9,SPARCL1,"SPARC like 1",4,"Rare Single Gene Mutation, Functional",3,0,3
9,SPAST,Spastin,2,"Rare Single Gene Mutation",2,0,8
9,SPP2,"secreted phosphoprotein 2",2,"Rare Single Gene Mutation",4,0,3
9,SRCAP,"Snf2 related CREBBP activator protein",16,"Rare Single Gene Mutation",2,0,5
9,SRGAP3,"SLIT-ROBO Rho GTPase activating protein 3",3,"Rare Single Gene Mutation",4,0,3
9,SRRM4,"Serine/arginine repetitive matrix 4",12,"Rare Single Gene Mutation, Functional",5,0,5
9,SRSF11,"serine and arginine rich splicing factor 11Â ",1,"Rare Single Gene Mutation",2,0,3
9,SSPO,SCO-spondinÂ ,7,"Rare Single Gene Mutation",4,0,3
9,ST7,"suppression of tumorigenicity 7",7,"Rare Single Gene Mutation",4,0,4
9,STAT1,"signal transducer and activator of transcription 1",2,"Rare Single Gene Mutation, Functional",5,0,2
9,STK39,"serine threonine kinase 39 (STE20/SPS1 homolog, yeast)",2,"Genetic Association",4,0,5
9,STXBP5,"Syntaxin binding protein 5 (tomosyn)Â ",6,"Rare Single Gene Mutation",3,0,6
9,STYK1,"Serine/threonine/tyrosine kinase 1",12,"Genetic Association",4,0,1
9,SUCLG2,"succinate-CoA ligase, GDP-forming, beta subunit",3,"Rare Single Gene Mutation",6,0,4
9,SYN3,"Synapsin III",22,"Rare Single Gene Mutation, Functional",5,0,2
9,SYNJ1,"synaptojanin 1",21,"Rare Single Gene Mutation",4,0,1
9,SYT17,"synaptotagmin XVII",16,"Genetic Association",4,0,2
9,TAF1L,"TAF1 RNA polymerase II",9,"Rare Single Gene Mutation",6,0,3
9,TAF6,"TATA-box binding protein associated factor 6",7,"Rare Single Gene Mutation",3,0,2
9,TANC2,"etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2Â ",17,"Rare Single Gene Mutation",4,0,4
9,TBC1D5,"TBC1 domain family, member 5",3,"Rare Single Gene Mutation",4,0,6
9,TBL1X,"transducin (beta)-like 1X-linked",X,"Genetic Association",4,0,1
9,TCF7L2,"Transcription factor 7-like 2 (T-cell specific, HMG-box)",10,"Rare Single Gene Mutation",3,0,2
9,TDO2,"tryptophan 2,3-dioxygenase",4,"Genetic Association",4,0,4
9,TECTA,"tectorin alpha",11,"Rare Single Gene Mutation",4,0,5
9,TERF2,"Telomeric repeat binding factor 2",16,"Rare Single Gene Mutation",3,0,3
9,TERT,"telomerase reverse transcriptaseÂ ",5,"Rare Single Gene Mutation, Functional",5,0,2
9,MYOZ1,"Myozenin 1",10,"Rare Single Gene Mutation",,0,1
9,TGM3,"transglutaminase 3",20,"Rare Single Gene Mutation",6,0,5
9,TLK2,"tousled-like kinase 2",17,"Rare Single Gene Mutation",5,0,7
9,TM4SF19,"transmembrane 4 L six family member 19",3,"Rare Single Gene Mutation",4,0,3
9,TNRC6B,"Trinucleotide repeat containing 6B",22,"Rare Single Gene Mutation",2,0,5
9,TOMM20,"Translocase of outer mitochondrial membrane 20 homolog (yeast)",1,Functional,5,0,1
9,TOP1,"Topoisomerase (DNA) I",20,"Rare Single Gene Mutation, Functional",5,0,6
9,TOP3B,"Topoisomerase (DNA) III beta",22,"Rare Single Gene Mutation, Genetic Association, Functional",4,0,5
9,TRPC6,"Transient receptor potential cation channel, subfamily C, member 6Â ",11,"Rare Single Gene Mutation",3,0,2
9,TRPM1,"Transient receptor potential cation channel, subfamily M, member 1",15,"Rare Single Gene Mutation",3,0,3
9,TSHZ3,"teashirt zinc finger homeobox 3",19,"Rare Single Gene Mutation",4,0,2
9,TSN,translin,2,Functional,5,0,3
9,TSPAN17,"tetraspanin 17Â ",5,"Rare Single Gene Mutation",4,0,3
9,TTC25,"tetratricopeptide repeat domain 25",17,"Genetic Association",4,0,1
9,UBA6,"Ubiquitin-like modifier activating enzyme 6",4,Functional,5,0,2
9,UBE2H,"ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)",7,"Genetic Association",4,0,2
9,UBE3C,"Ubiquitin protein ligase E3C",7,"Rare Single Gene Mutation",3,0,4
9,UBN2,"ubinuclein 2",7,"Rare Single Gene Mutation",2,0,3
9,UBR5,"Ubiquitin protein ligase E3 component n-recognin 5",8,"Rare Single Gene Mutation",3,0,6
9,UBR7,"ubiquitin protein ligase E3 component n-recognin 7 (putative)",14,"Rare Single Gene Mutation",5,0,1
9,UCN3,"urocortin 3",10,Functional,5,0,1
9,UNC13A,"unc-13 homolog A",19,"Rare Single Gene Mutation, Syndromic",4,1,4
9,USH2A,usherin,1,"Rare Single Gene Mutation",4,0,3
9,USP15,"ubiquitin specific peptidase 15",12,"Rare Single Gene Mutation",3,0,2
9,USP45,"Ubiquitin specific peptidase 45",6,"Rare Single Gene Mutation",3,0,2
9,VASH1,"vasohibin 1",14,"Genetic Association",4,0,4
9,VIL1,"Villin 1",2,"Rare Single Gene Mutation",3,0,1
9,VLDLR,"Very low density lipoprotein receptor",9,Functional,5,0,3
9,VSIG4,"V-set and immunoglobulin domain containing 4",X,"Rare Single Gene Mutation",4,0,2
9,WDR93,"WD repeat domain 93",15,"Rare Single Gene Mutation",5,0,1
9,XIRP1,"xin actin-binding repeat containing 1",3,"Rare Single Gene Mutation",6,0,6
9,YWHAE,"Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide",17,"Rare Single Gene Mutation",4,0,5
9,ZC3H4,"zinc finger CCCH-type containing 4",19,"Rare Single Gene Mutation",3,0,2
9,ZNF292,"zinc finger protein 292",6,"Rare Single Gene Mutation",4,0,2
9,ZNF548,"zinc finger protein 548",19,"Rare Single Gene Mutation",4,0,2
9,ZNF559,"Zinc finger protein 559Â ",19,"Rare Single Gene Mutation",4,0,3
9,ZNF626,"zinc finger protein 626",19,"Rare Single Gene Mutation",4,0,2
9,SERPINE1,"Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1",7,"Genetic Association",,0,2
9,SIK1,"Salt-inducible kinase 1",21,"Rare Single Gene Mutation",,0,5
9,SLC24A2,"Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2",9,"Rare Single Gene Mutation",,0,2
9,SLC25A27,"Solute carrier family 25, member 27",6,"Genetic Association",,0,1
9,SLC29A4,"Solute carrier family 29 (equilibrative nucleoside transporter), member 4",7,"Rare Single Gene Mutation",,0,1
9,SLC35A3,"Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3",1,"Rare Single Gene Mutation",,0,2
9,SLC39A11,"Solute carrier family 39 (metal ion transporter), member 11",17,"Genetic Association",,0,1
9,SLCO1B3,"Solute carrier organic anion transporter family, member 1B3Â ",12,"Rare Single Gene Mutation",,0,2
9,SLIT3,"Slit homolog 3 (Drosophila)",5,"Rare Single Gene Mutation",,0,2
9,SNAP25,"Synaptosomal-associated protein, 25kDa",20,"Rare Single Gene Mutation, Genetic Association",,0,5
9,SNX19,"Sorting nexin 19",11,"Rare Single Gene Mutation",,0,2
9,SOD1,"Superoxide dismutase 1, soluble",21,"Genetic Association, Functional",,0,2
9,SRD5A2,"Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)",2,"Rare Single Gene Mutation, Genetic Association",,0,3
9,STX1A,"Syntaxin 1A (brain)",7,"Rare Single Gene Mutation, Genetic Association",,0,6
9,SYAP1,"Synapse associated protein 1",X,"Rare Single Gene Mutation",,0,2
9,SYN2,"Synapsin II",3,"Rare Single Gene Mutation, Genetic Association, Functional",,0,6
9,SYT3,"synaptotagmin III",19,"Rare Single Gene Mutation",,0,1
9,TAF1C,"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa",16,"Rare Single Gene Mutation, Genetic Association",,0,2
9,TBC1D31,"TBC1 domain family, member 31",8,"Rare Single Gene Mutation",,0,2
9,TBC1D7,"TBC1 domain family, member 7",6,"Rare Single Gene Mutation, Functional",,0,4
9,TET2,"Tet methylcytosine dioxygenase 2",4,"Rare Single Gene Mutation",,0,3
9,TH,"tyrosine hydroxylase",11,"Rare Single Gene Mutation, Genetic Association",,0,7
9,THAP8,"THAP domain containing 8",19,"Rare Single Gene Mutation",,0,1
9,THBS1,"Thrombospondin 1",15,"Rare Single Gene Mutation, Genetic Association",,0,2
9,THRA,"Thyroid hormone receptor, alpha",17,"Rare Single Gene Mutation, Functional",,0,2
9,TMEM231,"Transmembrane protein 231",16,"Rare Single Gene Mutation, Syndromic",,0,2
9,TNN,"Tenascin N",1,"Rare Single Gene Mutation",,0,3
9,TPO,"Thyroid peroxidase",2,"Genetic Association",,0,1
9,TRIM33,"Tripartite motif containing 33",1,"Genetic Association",,0,1
9,TTI2,"TELO2 interacting protein 2",8,"Rare Single Gene Mutation",,0,1
9,TYR,"Tyrosinase (oculocutaneous albinism IA)",11,"Rare Single Gene Mutation, Functional",,0,3
9,UPB1,"Ureidopropionase, beta",22,"Rare Single Gene Mutation",,0,1
9,USP9Y,"ubiquitin specific peptidase 9, Y-linked",Y,"Rare Single Gene Mutation, Genetic Association",,0,2
9,UTRN,Utrophin,6,"Rare Single Gene Mutation",,0,1
9,VIP,"Vasoactive intestinal peptide",6,"Rare Single Gene Mutation, Functional",,0,6
9,WNT1,"Wingless-type MMTV integration site family, member 1",12,"Genetic Association",,0,3
9,XPC,"xeroderma pigmentosum, complementation group C",3,"Rare Single Gene Mutation, Syndromic",,0,8
9,YEATS2,"YEATS domain containing 2",3,"Genetic Association",,0,1
9,YTHDC2,"YTH domain containing 2",5,"Rare Single Gene Mutation, Genetic Association",,0,4
9,ZBTB16,"Zinc finger and BTB domain containing 16",11,"Genetic Association",,0,1
9,ZNF18,"zinc finger protein 18",17,"Rare Single Gene Mutation",,0,1
9,ZNF385B,"Zinc finger protein 385BÂ ",2,"Genetic Association",,0,2
9,ZNF407,"Zinc finger protein 407",18,"Rare Single Gene Mutation, Syndromic",,0,5
9,ZNF517,"Zinc finger protein 517",8,"Rare Single Gene Mutation",,0,2
9,ZNF713,"Zinc finger protein 713",7,"Rare Single Gene Mutation",4,0,1
9,ZNF774,"Zinc finger protein 774",15,"Rare Single Gene Mutation",,0,2
9,ZNF8,"Zinc finger protein 8",19,"Rare Single Gene Mutation",5,0,1
9,ZNF804A,"Zinc finger protein 804A",2,"Rare Single Gene Mutation, Genetic Association",,0,10
9,ZNF827,"Zinc finger protein 827",4,"Genetic Association",,0,1
9,ZSWIM5,"zinc finger, SWIM-type containing 5",1,"Rare Single Gene Mutation",6,0,1
9,ZWILCH,"zwilchÂ kinetochore protein",15,"Rare Single Gene Mutation",4,0,3
9,TERB2,"telomere repeat binding bouquet formation protein 2",15,"Rare Single Gene Mutation",,0,1
