GeneName	GeneInfo
A2ML1	Noonan-like syndrome (Vissers et al. 2015);
ABCC9	Cardiomyopathy dilated 1O 608569;Atrial fibrillation familial 12 614050;Hypertrichotic osteochondrodysplasia 239850;
ABCD1	Adrenoleukodystrophy 300100;Adrenomyeloneuropathy adult 300100;
ABCD4	Methylmalonic aciduria and homocystinuria cblJ type 614857;
ABHD5	Chanarin-Dorfman syndrome 275630;
ACAD9	ACAD9 deficiency 611126;
ACO2	Infantile cerebellar-retinal degeneration 614559;
ACOX1	Peroxisomal acyl-CoA oxidase deficiency 264470;
ACSF3	Combined malonic and methylmalonic aciduria 614265;
ACSL4	Mental retardation X-linked 63 300387;
ACTB	Dystonia juvenile-onset 607371;Baraitser-Winter syndrome 1 243310;
ACTG1	Deafness autosomal dominant 20/26 604717;Baraitser-Winter syndrome 2 614583;
ACVR1	Fibrodysplasia ossificans progressiva 135100;
ACY1	Aminoacylase 1 deficiency 609924;
ADAR	Dyschromatosis symmetrica hereditaria 127400;Aicardi-Goutieres syndrome 6 615010;
ADAT3	Mental retardation autosomal recessive 36 615286;
ADCK3	Coenzyme Q10 deficiency primary 4 612016;
ADK	Hypermethioninemia due to adenosine kinase deficiency 614300;
ADNP	Mental retardation autosomal dominant 28 615873;
ADSL	ade(-)I bifunctional Adenylosuccinase deficiency 103050;
AFF2	Mental retardation X-linked FRAXE type 309548;
AGA	Aspartylglucosaminuria 208400;
AGO2	No OMIM phenotype;
AGPAT2	Lipodystrophy congenital generalized type 1 608594;
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 613752;
AHDC1	Xia-Gibbs syndrome 615829;
AHI1	Joubert syndrome-3 608629;
AIFM1	Combined oxidative phosphorylation deficiency 6 300816;Cowchock syndrome 310490;
AIMP1	Leukodystrophy hypomyelinating 3 260600;
AK1	Hemolytic anemia due to adenylate kinase deficiency 612631;
AKT3	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 603387;
ALDH18A1	Cutis laxa autosomal recessive type IIIA 219150;
ALDH3A2	Sjogren-Larsson syndrome 270200;
ALDH4A1	Hyperprolinemia type II 239510;
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency 271980;
ALG1	Congenital disorder of glycosylation type Ik 608540;
ALG12	Congenital disorder of glycosylation type Ig 607143;
ALG13	Congenital disorder of glycosylation type Is 300884;
ALG2	Congenital disorder of glycosylation type Ii 607906;
ALG3	Congenital disorder of glycosylation type Id 601110;
ALG6	Congenital disorder type Ic 603147;
ALG9	Congenital disorder of glycosylation type Il 608776;
ALX1	Frontonasal dysplasia 3 613456;
ALX4	Parietal Foramina 2 609597;Frontonasal Dysplasia 2 613451;
AMPD2	Pontocerebellar Hypoplasia type 9 615809;Spastic Paraplegia 63 615686;
AMT	Glycine Encephalopathy 605899;
ANK3	Mental Retardation Autosomal Recessive 37;
ANKH	Craniometaphyseal Dysplasia 123000;Chondrocalcinosis 2 118600;
ANKRD11	KBG syndrome 148050;
ANO10	Spinocerebellar ataxia autosomal recessive 10 613728;
ANTXR1	GAPO syndrome 230740;Hemangioma capillary infantile susceptibility to 602089;
AP1S2	Mental retardation X-linked syndromic Fried type 300630;
AP3B1	Hermansky-Pudlak syndrome 2 608233;
AP4B1	Spastic paraplegia 47 autosomal recessive 614066;
AP4E1	Spastic paraplegia 51 autosomal recessive 613744;
AP4M1	Spastic paraplegia 50 autosomal recessive 612936;
AP4S1	Spastic paraplegia 52 autosomal recessive 614067;
APTX	Ataxia early-onset with oculomotor apraxia and hypoalbuminemia 208920;
ARFGEF2	Periventricular heterotopia with microcephaly 608097;
ARG1	Argininemia 207800;
ARHGEF6	Mental retardation X-linked 46 300436;
ARHGEF9	Epileptic encephalopathy early infantile 8 300607;
ARID1A	Mental retardation autosomal dominant 14 614607;
ARID1B	Mental retardation autosomal dominant 12 614562;
ARID2	No OMIM phenotype;Intellectual disability (Shang (2015) Neurogenetics epub);Schizophrenia (Fromer (2014) Nature 506 179);
ARL13B	Joubert syndrome 8 612291;
ARL6	Bardet-Biedl syndrome 3 209900;Bardet-Biedl syndrome 1 modifier of 209900;Retinitis pigmentosa 55 613575;
ARSE	Chondrodysplasia punctata X-linked recessive 302950;
ARX	Epileptic encephalopathy early infantile 1 308350;Lissencephaly X-linked 2 300215;Mental retardation X-linked 29 and others 300419;Proud syndrome 300004;Partington syndrome 309510;
ASL	Argininosuccinic aciduria 207900;
ASNS	Asparagine synthetase deficiency 615574;
ASPA	Canavan disease 271900;
ASPM	Microcephaly 5 primary autosomal recessive 608716;
ASXL1	Bohring-Opitz syndrome 605039;Myelodysplastic syndrome somatic 614286;
ASXL3	Bainbridge-Ropers syndrome 615485;
ATIC	AICA-ribosiduria due to ATIC deficiency 608688;
ATP1A2	Migraine familial hemiplegic 2 602481;Alternating hemiplegia of childhood 104290;Migraine familial basilar 602481;
ATP2A2	Darier disease 124200;Acrokeratosis verruciformis 101900;
ATP6AP2	Mental retardation X-linked with epilepsy 300423;
ATP6V0A2	Cutis laxa autosomal recessive type IIA 219200;Wrinkly skin syndrome 278250;
ATP7A	Menkes disease 309400;Occipital horn syndrome 304150;Spinal muscular atrophy distal X-linked 3 300489;
ATP8A2	Cerebellar ataxia mental retardation and dysequilibrium syndrome 4 615268;
ATR	Seckel syndrome 1 210600;Cutaneous telangiectasia and cancer syndrome familial 614564;
ATRX	Alpha-thalassemia/mental retardation syndrome 301040;Alpha-thalassemia myelodysplasia syndrome somatic 300448;Mental retardation-hypotonic facies syndrome X-linked 309580;
AUH	3-methylglutaconic aciduria type I 250950;
AUTS2	Mental Retardation autosomal dominant 26 615834;
B3GLCT	Peters-plus syndrome 261540;
B4GALT1	Congenital disorder of glycosylation type IId 607091;
B4GALT7	Ehlers-Danlos syndrome progeroid type 1 130070;
BBS1	Bardet-Biedl syndrome 1 209900;
BBS10	Bardet-Biedl syndrome 10 209900;
BBS12	Bardet-Biedl syndrome 12 209900;
BBS2	Bardet-Biedl syndrome 2 209900;
BBS4	Bardet-Biedl syndrome 4 209900;
BBS5	Bardet-Biedl syndrome 5 209900;
BBS7	Bardet-Biedl syndrome 7 209900;
BBS9	Bardet-Biedl syndrome 9 209900;
BCKDHA	Maple syrup urine disease type Ia 248600;
BCKDHB	Maple syrup urine disease type Ib 248600;
BCL11A	No OMIM phenotype;Autism spectrum disorder & developmental delay (Basak (2015) J Clin Invest 125 2363);Childhood apraxia of speech disarthria oral/motor dyspraxia hypotonia and intellectual delay (Peter;(2014) Am J Med Genet A 164 2091);
BCOR	Microphthalmia syndromic 2 300166;
BCS1L	Mitochondrial complex III deficiency nuclear type 1 124000;Leigh syndrome 256000;Bjornstad syndrome 262000;GRACILE syndrome 603358;
BLM	Bloom syndrome 210900;
BRAF	Melanoma malignant somatic;Colorectal cancer somatic;Adenocarcinoma of lung somatic 211980;Nonsmall cell lung cancer somatic;Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707;
BRWD3	Mental retardation X-linked 93 300659;
BSCL2	Lipodystrophy congenital generalized type 2 269700;Silver spastic paraplegia syndrome 270685;Neuropathy distal hereditary motor type V 600794;
BTD	Biotinidase deficiency 253260;
BUB1B	Colorectal cancer somatic 114500;Mosaic variegated aneuploidy syndrome 1 257300;[Premature chromatid separation trait] 176430;
C12orf57	Temtamy syndrome 218340;
C12orf65	Combined oxidative phosphorylation deficiency 7 613559;Spastic paraplegia 55 autosomal recessive 615035;
C2CD3	Orofaciodigital syndrome XIV 615948;
C5orf42	Joubert syndrome 17 614615;
CA2	Osteopetrosis autosomal recessive 3 with renal tubular acidosis 259730;
CA8	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227;
CACNG2	Mental retardation autosomal dominant 10 614256;
CAMTA1	Cerebellar ataxia nonprogressive with mental retardation 614756;
CASK	Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749;FG syndrome 4 300422;Mental retardation with or without nystagmus 300422;
CBL	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563;
CBS	Homocystinuria B6-responsive and nonresponsive types 236200;Thrombosis hyperhomocysteinemic 236200;
CC2D1A	Mental retardation autosomal recessive 3 608443;
CC2D2A	Joubert syndrome 9 612285;Meckel syndrome 6 612284;COACH syndrome 216360;
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome 235510;
CCDC78	Myopathy centronuclear 4 614807;
CDH15	Mental retardation autosomal dominant 3 612580;
CDK5RAP2	Microcephaly 3 primary autosomal recessive 604804;
CDKL5	Epileptic encephalopathy early infantile 2 300672;Angelman syndrome-like 105830;
CDON	Holoprosencephaly 11 614226;
CENPJ	Microcephaly 6 primary autosomal recessive 608393;Seckel syndrome 4 613676;
CEP135	Microcephaly 8 primary autosomal recessive 614673;
CEP152	Microcephaly 9 primary autosomal recessive 614852;Seckel syndrome 5 613823;
CEP290	Joubert syndrome 5 610188;Senior-Loken syndrome 6 610189;Leber congenital amaurosis 10 611755;Meckel syndrome 4 611134;Bardet-Biedl syndrome 14 209900;
CEP41	Joubert syndrome 15 614464;
CHAMP1	Mental retardation autosomal dominant 40 616579;
DSCAM	Epileptic encephalopathy childhood-onset 615369;
CHD7	CHARGE syndrome 214800;Scoliosis idiopathic 3 608765;Hypogonadotropic hypogonadism 5 with or without anosmia 612370;
CHD8	Autism susceptibility to 18 615032;
CHKB	Muscular dystrophy congenital megaconial type 602541;
CLCNKB	Bartter syndrome type 3 607364;Bartter syndrome type 4b digenic 613090;
CLIC2	Mental retardation X-linked syndromic 32 300886;
CLN3	Ceroid lipofuscinosis neuronal 3 204200;
CLN5	Ceroid lipofuscinosis neuronal 5 256731;
CLN6	Ceroid lipofuscinosis neuronal 6 601780;Ceroid lipofuscinosis neuronal Kufs type adult onset 204300;
CLN8	Ceroid lipofuscinosis neuronal 8 600143;Ceroid lipofuscinosis neuronal 8 Northern epilepsy variant 610003;
CNKSR2	No OMIM phenotype;Intellectual disability X-linked non syndromic (Vaags (2014) Ann Neurol 76 758);
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome 610042;Autism susceptibility 15 612100;Pitt-Hopkins like syndrome 1 610042;
COG1	Congenital disorder of glycosylation type IIg 611209;
COG6	Congenital disorder of glycosylation type 2l 614576;Shaheen syndrome 615328;
COG7	Congenital disorder of glycosylation type IIe 608779;
COG8	Congenital disorder of glycosylation type IIh 611182;
COL4A1	Porencephaly 1 175780;Brain small vessel disease with hemorrhage 607595;Angiopathy hereditary with nephropathy aneurysms and muscle 611773;Brain small vessel disease with Axenfeld-Rieger anomaly 607595;
COL4A2	Porencephaly 2 614483;Hemorrhage intracerebral susceptibility to 614519;
COL4A3BP	Mental retardation autosomal dominant 34 616351;
COLEC11	3MC syndrome 2 265050;
COQ2	Coenzyme Q10 deficiency primary 1 607426;Multiple system atrophy susceptibility to 146500;
COQ4	Coenzyme Q10 deficiency primary 7 616276;
COX10	Leigh syndrome due to mitochondrial COX4 deficiency 256000;Mitochondrial complex IV deficiency 220110;
COX15	Leigh syndrome due to cytochrome c oxidase deficiency 256000;Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 2 615119;
CPS1	Carbamoylphosphate synthetase I deficiency 237300;Pulmonary hypertension neonatal susceptibility to 615371;Venoocclusive disease after bone marrow transplantation;
CRADD	Mental retardation autosomal recessive 34 614499;
CRBN	Mental retardation autosomal recessive 2 607417;
CREBBP	Rubinstein-Taybi syndrome 180849;
CSNK2A1	No OMIM phenotype;Glaucoma primary congenital (Lee (2011) Mol Vis 17 3583);
CTCF	Mental retardation autosomal dominant 21 615502;
CTDP1	Congenital cataracts facial dysmorphism and neuropathy 604168;
CTNNB1	Mental retardation autosomal dominant 19 615075;Colorectal cancer somatic 114500;Hepatocellular carcinoma somatic 114550;Ovarian cancer somatic 167000;Pilomatricoma somatic 132600;
CTNND1	No OMIM phenotype;Autism? (O'Roak (2012) Nature 485 246);
CTSA	Galactosialidosis 256540;
CTSD	Ceroid lipofuscinosis neuronal 10 610127;
CTTNBP2	No OMIM phenotype;Autism? (Iossifov (2012) Neuron 74 285);
CUBN	Megaloblastic anemia-1 Finnish type 261100;
CUL4B	Mental retardation X-linked syndromic 15 (Cabezas type) 300354;
CYB5R3	Methemoglobinemia type I 250800;Methemoglobinemia type II 250800;
D2HGDH	D-2-hydroxyglutaric aciduria 600721;
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 611105;
DBT	Maple syrup urine disease type II 248600;
DCAF17	Woodhouse-Sakati syndrome 241080;
DCPS	Al-Raqad syndrome 616459;
DCX	Lissencephaly X-linked 300067;Subcortical laminal heteropia X-linked 300067;
DDHD2	Spastic paraplegia 54 autosomal recessive 615033;
DDX11	Warsaw breakage syndrome 613398;
DDX3X	Mental retardation X-linked 102 300958;
DEAF1	Mental retardation autosomal dominant 24 615828;
DHCR24	Desmosterolosis 602398;
DHCR7	Smith-Lemli-Opitz syndrome 270400;
DHFR	Megaloblastic anemia due to dihydrofolate reductase deficiency 613839;
DHTKD1	2-aminoadipic 2-oxoadipic aciduria 204750;Charcot-Marie-Tooth disease axonal type 2Q 615025;
DIAPH1	Deafness autosomal dominant 1 124900;Seizures cortical blindness microcephaly syndrome 616632;
DIP2B	Mental retardation FRA12A type 136630;
DKC1	Dyskeratosis congenita X-linked 305000;
DLD	Dihydrolipoamide dehydrogenase deficiency 246900;
DLG3	Mental retardation X-linked 90 300850;
DLG4	no OMIM phenotype;Autism spectrum disorder (An (2014) Transl Psychiatry 4 e394);
DMD	Duchenne muscular dystrophy 310200;Becker muscular dystrophy 300376;Cardiomyopathy dilated 3B 302045;
DMPK	Myotonic dystrophy 1 160900;
DNAJC19	3-methylglutaconic aciduria type V 610198;
DNM1	Epileptic encephalopathy early infantile 31 616346;
DNMT3A	Tatton-Brown-Rahman syndrome 615879;
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860;
DOCK8	Mental retardation autosomal dominant 2 614113;Hyper-IgE recurrent infection syndrome autosomal recessive 243700;
DPAGT1	Congenital disorder of glycosylation type Ij 608093;Myasthenic syndrome congenital with tubular aggregates 2 614750;
DPM1	Congenital disorder of glycosylation type Ie 608799;
DPP6	Mental retardation autosomal dominant 33 616311;Ventricular fibrillation paroxysmal familial 2;
DPYD	Dihydropyrimidine dehydrogenase deficiency 274270;5-fluorouracil toxicity 274270;
DST	Neuropathy hereditary sensory and autonomic type VI 614653;Epidermolysis bullosa simplex sutosomal recessive 2 615425;
DYM	Dyggve-Melchior-Clausen disease 223800;Smith-McCort dysplasia 607326;Encephalopahty lethal due to defective mitochondrial peroxisomal fission 614388;
DYNC1H1	Charcot-Marie-Tooth disease axonal type 20 614228;Mental retardation autosomal dominant 13 614563;Spinal muscular atrophy lower extremity-predominant AD 158600;
DYRK1A	Mental retardation autosomal dominant 7 614104;
EBP	Chondrodysplasia punctata X-linked dominant 302960;
EDC3	Mental retardation autosomal recessive 50 616460;
EEF1A2	Epileptic encephalopathy early infantile 33 616409;Mental retardation autosomal dominant 38 616393;
EFTUD2	Mandibulofacial dysostosis Guion-Almeida type 610536;
EHMT1	Kleefstra syndrome 610253;
EIF2AK3	Wolcott-Rallison syndrome 226980;
EIF4G1	Parkinsons disease 18 614251;
ELOVL4	Stargardt disease 3 600110;Macular dystrophy autosomal dominant chromosome 6-linked 600110;Ichthyosis spastic quadriplegia and mental retardation 614457;
EMX2	Schizencephaly 269160;
EP300	Colorectal cancer somatic 114500;Rubinstein-Taybi syndrome 2 613684;
EPB41L1	Mental retardation autosomal dominant 11 614257;
ERCC2	Xeroderma pigmentosum group D 278730;Trichothiodystrophy 601675;Cerebrooculofacioskeletal syndrome 2 610756;
ERCC3	Xeroderma pigmentosum group B 610651;Trichothiodystrophy 601675;
ERCC5	Xeroderma pigmentosum group G 278780;Xeroderma pigmentosum group G/Cockayne syndrome 278780;
ERCC6	Cockayne syndrome type B 133540;Cerebrooculofacioskeletal syndrome 1 214150;De Sanctis-Cacchione syndrome 278800;Macular degeneration age-related susceptibility to 5 613761;UV-sensitive syndrome 1 600630;Lung cancer su;
ERCC8	Cockayne syndrome type A 216400;UV-sensitive syndrome 2 614621;
ERLIN2	Spastic paraplegia 18 autosomal recessive 611225;
ESCO2	Roberts syndrome 268300;SC phocomelia syndrome 269000;
ETFB	Glutaric acidemia 2B 231680;
ETHE1	Ethylmalonic encephalopathy 602473;
EXOSC3	Pontocerebellar hypoplasia type 1B 614678;
EZH2	Weaver syndrome 277590;
FAM126A	Leukodystrophy hypomyelinating 5 610532;
FBN1	Marfan syndrome 154700;Ectopia lentis familial 129600;MASS syndrome 604308;Weill-Marchesani syndrome 2 dominant 608328;Aortic aneurysm ascending and dissection;Stiff skin syndrome 184900;Acromicric dysplasia 102370;
FBXO31	Mental retardation autosomal recessive 45 615979;
FGD1	Aarskog-Scott syndrome 305400;Mental retardation X-linked syndromic 16 305400;
FGFR1	Pfeiffer syndrome 101600;Jackson-Weiss syndrome 123150;Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Osteoglophonic dysplasia 166250;Trigonocephaly 1 190440;Hartsfield syndrome 615465;
FGFR2	Crouzon syndrome 123500;Jackson-Weiss syndrome 123150;Beare-Stevenson cutis gyrata syndrome 123790;Pfeiffer syndrome 101600;Apert syndrome 101200;Saethre-Chotzen syndrome 101400;Craniosynostosis nonspecific;
FGFR3	Achondroplasia 100800;Hypochondroplasia 146000;Thanatophoric dysplasia type I 187600;Crouzon syndrome with acanthosis nigricans 612247;Muenke syndrome 602849;Bladder cancer somatic 109800;Colorectal cancer somatic 1;
FH	Fumarase deficiency 606812;Leiomyomatosis and renal cell cancer 150800;
FIGN	No OMIM phenotype;
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5 613153;Muscular dystrophy-dystroglycanopathy (congenital w/wo mental retardation) type B 5 606612;
FKTN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 4 253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B 4 613152;Cardiomyopathy dilated 1X 611615;
FLNA	Heterotopia periventricular 300049;Otopalatodigital syndrome type I 311300;Otopalatodigital syndrome type II 304120;Intestinal pseudoobstruction neuronal 300048;Melnick-Needles syndrome 309350;
FLVCR1	Ataxia posterior column with retinitis pigmentosa 609033;
FMN2	Mental retardation autosomal recessive 47 616193;
FMR1	Fragile X syndrome 300624;Fragile X tremor/ataxia syndrome 300623;Premature ovarian failure 1 311360;
FOXG1	Rett syndrome congenital variant 613454;
FOXP1	Mental retardation with language impairment and autistic features 613670;
FOXP2	Speech-language disorder-1 602081;
FRAS1	Fraser syndrome 219000;
FTO	Growth retardation developmental delay coarse facies and early death 612938;
FTSJ1	Mental retardation X-linked 9 309549;
FUCA1	Fucosidosis 230000;
GABRA1	Epileptic encephalopathy early infantile 19 615744;Epilepsy childhood absence susceptibility to 4;Epilepsy juvenile myoclonic susceptibility to 5 611136;
GAD1	Cerebral palsy spastic quadriplegic 1 603513;
GALE	Galactose epimerase deficiency 230350;
GALT	Galactosemia 230400;
GAMT	Cerebral creatine deficiency syndrome 2 612736;
GATAD2B	Mental retardation autosomal dominant 18 615074;
GATM	Cerebral creatine deficiency syndrome 3 612718;
GCH1	Dystonia DOPA-responsive with or without hyperphenylalaninemia 128230;Hyperphenylalaninemia BH4-deficient B 233910;
GCSH	Glycine encephalopathy 605899;
GDI1	Mental retardation X-linked 41 300849;
GFAP	Alexander disease 203450;
GJB1	Charcot-Marie-Tooth neuropathy X-linked dominant 1 302800;
GJC2	Leukodystrophy hypomyelinating 2 608804;Spastic paraplegia 44 autosomal recessive 613206;Lymphedema hereditary IC 613480;
GK	Glycerol kinase deficiency 307030;
GLB1	GM1-gangliosidosis type I 230500;GM1-gangliosidosis type II 230600;GM1-gangliosidosis type III 230650;Mucopolysaccharidosis type IVB (Morquio) 253010;
GLDC	Glycine encephalopathy 605899;
GLI2	Holoprosencephaly-9 610829;
GLI3	Greig cephalopolysyndactyly syndrome 175700;Pallister-Hall syndrome 146510;Polydactyly preaxial type IV 174700;Polydactyly postaxial types A1 and B 174200;Hypothalamic hamartomas somatic 241800;
GM2A	GM2-gangliosidosis AB variant 272750;
GMPPA	Alacrima achalasia and mental retardation syndrome 615510;
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 14 6135350;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 14 615351;
GNAO1	Epileptic encephalopathy early infantile 17 615473;
GNAS	Pseudohypoparathyroidism Ia 103580;McCune-Albright syndrome 174800;Pseudohypoparathyroidism Ic 612462;Osseous heteroplasia progressive 166350;Pseudohypoparathyroidism Ib 603233;
GNPAT	Chondrodysplasia punctata rhizomelic type 2 222765;
GNS	Mucopolysaccharidosis type IIID 252940;
GPC3	Simpson-Golabi-Behmel syndrome type 1 312870;Wilms tumor somatic 194070;
GPHN	Molybdenum cofactor deficiency type C 252150;
ADGRG1	Polymicrogyria bilateral frontoparietal 606854;
GPT2	Mental retardation autosomal recessive 49 616281;
GRIA3	Mental retardation X-linked 94 300699;
GRID2	Spinocerebellar ataxia autosomal recessive 18 616204;
GRIK2	Mental retardation autosomal recessive 6 611092;
GRIN1	Mental retardation autosomal dominant 8 614254;
GRIN2A	Epilepsy with neurodevelopmental defects 613971;
GRIN2B	Mental retardation autosomal dominant 6 613970;
GRIN3B	No OMIM phenotype;Schizophrenia increased risk association with (Matsuno (2015) PLoS One 10 e0116319);
GRM1	Spinocerebellar ataxia autosomal recessive 13 614831;
GSE1	No OMIM phenotype;Autism (Sanders (2012) Nature 485 237);
GSS	Hemolytic anemia due to glutathione synthetase deficiency 231900;
GTF2H5	Trichothiodystrophy complementation group A 601675;
GUSB	Mucopolysaccharidosis VII 253220;
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures 616756;
HAX1	Neutropenia severe congenital 3 autosomal recessive 610738;
HCCS	Microphthalmia syndromic 7 309801;
HCFC1	Mental retardation X-linked 3 309541;
HCN1	Epileptic encephalopathy early infantile 24 615871;
HDAC4	Brachydactyly-mental retardation syndrome 600430;
HDAC6	Chondrodysplasia with platyspondyly distinctive brachydactyly hydrocephaly and microphthalmia;300863;
HDAC8	Wilson-Turner syndrome 309585;Cornelia de Lange syndrome 5 300882;
HECTD1	No OMIM phenotype;
HERC1	No OMIM phenotype;Overgrowth intellectual disability and facial dysmorfism (Ortega-Recalde (2015) Clin Genet 88 e1);
HERC2	Mental retardation autosomal recessive 38 615516;[Skin/hair/eye pigmentation 1 blond/brown hair] 227220;[Skin/hair/eye pigmentation 1 blue/nonblue eyes] 227220;
HESX1	Septooptic dysplasia 182230;Pituitary hormone deficiency combined 5 182230;Growth hormone deficiency with pituitary anomalies 182230;
HEXA	Tay-Sachs disease 272800;GM2-gangliosidosis several forms 272800;[Hex A pseudodeficiency] 272800;
HEXB	Sandhoff disease infantile juvenile and adult forms 268800;
HIVEP2	No OMIM phenotype;Intellectual disability nonsyndromic (Rauch (2012) Lancet epub);
HLCS	Holocarboxylase synthetase deficiency 253270;
HNMT	Mental retardation autosomal recessive 51 616739;Asthma susceptibility to 600807;
HOXA1	Bosley-Salih-Alorainy syndrome 601536;Athabaskan brainstem dysgenesis syndrome 601536;
HPD	Tyrosinemia type III 276710;Hawkinsinuria 140350;
HPRT1	Lesch-Nyhan syndrome 300322;
HRAS	Bladder cancer somatic 109800;Costello syndrome 218040;Thyroid carcinoma follicular somatic 188470;Congenital myopathy with excess of muscle spindles 218040;Nevus sebaceous somatic 162900;
HSD17B10	17-beta-hydroxysteroid dehydrogenase X deficiency 300438;Mental retardation X-linked syndromic 10 300220;Mental retardation X-linked 17/31 microduplication 300705;
HSPD1	Spastic paraplegia 13 autosomal dominant 605280;Leukodystrophy hypomyelinating 4 612233;
HUWE1	Mental retardation X-linked syndromic Turner type 300706;
IDS	Mucopolysaccharidosis II 309900;
IDUA	Mucopolysaccharidosis Ih 607014;Mucopolysaccharidosis Is 607016;Mucopolysaccharidosis Ih/s 607015;
IER3IP1	Microcephaly epilepsy and diabetes syndrome 614231;
IFT172	Short-rib thoracic dysplasia 10 with or without polydactyly 615630;
IGBP1	Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia 300472;
IGF1	Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747;
IKBKG	Incontinentia pigmenti type II 308300;Ectodermal dysplasia hypohidrotic with immune deficiency 300291;Ectodermal dysplasia anhidrotic lymphedema and immunodeficiency 300301;Immunodeficiency isolated 300584;
IL1RAPL1	Mental retardation X-linked 21/34 300143;
INPP5E	Mental retardation truncal obesity retinal dystrophy and micropenis 610156;Joubert syndrome 1 213300;
IQSEC2	Mental retardation X-linked 1 309530;
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 7 614643;
ITPR1	Spinocerebellar ataxia 15 606658;Spinocerebellar ataxia 29 congenital nonprogressive 117360;
JAG1	Alagille syndrome 118450;Deafness congenital heart defects and posterior embryotoxon;Tetralogy of Fallot 187500;
JAM3	Hemorrhagic destruction of the brain subependymal calcification and cataracts 613730;
KANK1	Cerebral palsy spastic quadriplegic 2 612900;
KANSL1	Koolen-De Vries syndrome 610443;
KAT6A	Mental retardation autosomal dominant 32 616268;
KAT6B	SBBYSS syndrome 603736;Genitopatellar syndrome 606170;
KCNC3	Spinocerebellar ataxia 13 605259;
KCNH1	Temple-Baraitser syndrome 611816;Zimmermann-Laband syndrome 1 135500;
KCNJ10	SESAME syndrome 612780;Enlarged vestibular aqueduct digenic 600791;
KCNJ11	Hyperinsulinemic hypoglycemia familial 2 601820;Diabetes permanent neonatal 606176;Diabetes mellitus permanent neonatal with neurologic features 606176;Diabetes mellitus type 2 susceptibility to 125853;
KCNK9	Birk-Barel mental retardation dysmorphism syndrome 612292;
KCNQ2	Seizures benign neonatal 1 121200;Myokymia 121200;Epileptic encephalopathy early infantile 7 613720;
KCNQ5	No OMIM phenotype;Schizophrenia (Fromer (2014) Nature 506 179);
KCNT1	Epileptic encephalopathy early infantile 14 614959;Epilepsy nocturnal frontal lobe 5 615005;
KCTD7	Epilepsy progressive myoclonic 3 with or without intracellular inclusions 611726;
KDM1A	Cleft palate psychomotor retardation and distinctive facial features 616728;
KDM5C	Mental retardation X-linked syndromic Claes-Jensen type 300534;
KDM6A	Kabuki syndrome 2 300867;
RUBCN	Spinocerebellar ataxia autosomal recessive 15 615705;
KIAA1033	Mental retardation autosomal recessive 43 615817;
KIAA1109	no OMIM phenotype;Dandy-Walker malformation hydrocephalus flexed deformity club feet micrognathia and pleural effusion;(Alazami (2015) Cell Rep 10 148);Schizophrenia (Gulsuner (2013) Cell 154 518);
KIF1BP	Goldberg-Shprintzen megacolon syndrome 609460;
KIAA2022	Mental retardation X-linked 98 300912;
KIF11	Microcephaly with or without chorioretinopathy lymphedema or mental retardation 152950;
KIF1A	Spastic paraplegia 30 autosomal recessive 610357;Neuropathy hereditary sensory type IIC 614213;Mental retardation autosomal dominant 9 614255;
KIF4A	Mental retardation X-linked 100 300923;
KIF5C	Cortical dysplasia complex with other brain malformations 2 615282;
KIF7	Hydrolethalus syndrome 2 614120;Acrocallosal syndrome 200990;Joubert syndrome 12 200990;
KIRREL3	Mental retardation autosomal dominant 4 612581;
KMT2A	Leukemia myeloid/lymphoid or mixed-lineage 159555;Wiedemann-Steiner syndrome 605130;
KMT2D	Kabuki syndrome 1 147920;
KPTN	Mental retardation autosomal recessive 41 615637;
KRAS	Noonan syndrome 3 609942;Bladder cancer somatic 109800;Breast cancer somatic 114480;Cardiofaciocutaneous syndrome 2 615278;Gastric cancer somatic 137215;Lung cancer somatic 211980;Pancreatic carcinoma somatic 260350;
KRBOX4	No OMIM phenotype;nonsyndromic X-linked mental retardation (Lugtenberg et al. 2006);
L1CAM	Hydrocephalus due to aqueductal stenosis 307000;MASA syndrome 303350;CRASH syndrome 303350;Hydrocephalus with Hirschsprung disease 307000;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000;
L2HGDH	L-2-hydroxyglutaric aciduria 236792;
LAMA1	Poretti-Boltshauser syndrome 615960;
LAMA2	Muscular dystrophy congenital merosin-deficient 607855;Muscular dystrophy congenital due to partial LAMA2 deficiency 607855;
LAMC3	Cortical malformations occipital 614115;
LAMP2	Danon disease 300257;
LARGE1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 6 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 6 608840;
LARP7	Alazami syndrome 615071;
LIG4	LIG4 syndrome 606593;Multiple myeloma resistance to 254500;Severe combined immunodeficiency with sensitivity to ionizing radiation 602450;
LINS1	Mental retardation autosomal recessive 27 614340;
LRP2	Donnai-Barrow syndrome 222448;
LRPPRC	Leigh syndrome French-Canadian type 220111;
MAGEL2	Prader-Willi-like syndrome 615547;
MAGT1	Mental retardation X-linked 95 300716;Immunodeficiency X-linked with magnesium defect Epstein-Barr virus infection and neoplasia 300853;
MAN1B1	Mental retardation autosomal recessive 15 614202;
MAN2B1	Mannosidosis alpha- types I and II 248500;
MANBA	Mannosidosis beta 248510;
MAOA	Brunner syndrome 300615;
MAP2K1	Cardiofaciocutaneous syndrome 3 615279;
MAP2K2	Cardiofaciocutaneous syndrome 4 615280;
MAT1A	Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III;deficiency 250850;Methionine adenosyltransferase deficiency autosomal recessive 250850;
MBD5	Mental retardation autosomal dominant 1 156200;
MBTPS2	IFAP syndrome with or without BRESHECK syndrome 308205;Keratosis follicularis spinulosa decalvans X-linked 308800;
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200;
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210;
MCOLN1	Mucolipidosis IV 252650;
MCPH1	Microcephaly 1 primary autosomal recessive 251200;
MECP2	Rett syndrome 312750;Mental retardation X-linked syndromic 13 300055;Rett syndrome preserved speech variant 312750;Encephalopathy neonatal severe 300673;Autism susceptibility X-linked 3 300496;Angelman syndrome 105830;
MED12	Opitz-Kaveggia syndrome 305450;Lujan-Fryns syndrome 309520;Ohdo syndrome X-linked 300895;
MED13L	Transposition of the great arteries dextro-looped 1 608808;
MED17	Microcephaly postnatal progressive with seizures and brain atrophy 613668;
MED23	Mental retardation autosomal recessive 18 614249;
MEF2C	Mental retardation stereotypic movements epilepsy and/or cerebral malformations 613443;Chromosome 5q14.3 deletion syndrome 613443;
METTL23	Mental retardation autosomal recessive 44 615942;
MGAT2	Congenital disorder of glycosylation type IIa 212066;
MID1	Opitz GBBB syndrome type I 300000;
MID2	Mental retardation X-linked 101 300928;
MKKS	McKusick-Kaufman syndrome 236700;Bardet-Biedl syndrome 6 209900;
MLYCD	Malonyl-CoA decarboxylase deficiency 248360;
MMAA	Methylmalonic aciduria vitamin B12-responsive 251100;
MMACHC	Methylmalonic aciduria and homocystinuria cblC type 277400;
MMADHC	Homocystinuria cbID type 277410;
MOCS1	Molybdenum cofactor deficiency type A 252150;
MOCS2	Molybdenum cofactor deficiency type B 252150;
MOGS	Congenital disorder of gycosylation type 2b 606056;
MPDU1	Congenital disorder of glycosylation type If 609180;
MPDZ	Hydrocephalus nonsyndromic autosomal recessive 2 615219;
MPLKIP	Trichothiodystrophy nonphotosensitive 1 234050;
MRPS22	Combined oxidative phosphorylation deficiency 5 611719;
MTHFR	Homocystinuria due to MTHFR deficiency 236250;Neural tube defects susceptibility to 601634;Schizophrenia susceptibility to 181500;Thromboembolism susceptibility to 188050;Vascular disease susceptibility to;
MTOR	Smith-Kingsmore syndrome 616638;
MTR	Homocystinuria-megaloblastic anemia cblG complementation type 250940;Neural tube defects folate-sensitive susceptibility to 601634;
MTRR	Homocystinuria-megaloblastic anemia cbl E type 236270;
MUT	Methylmalonic aciduria mut(0) type 251000;
MVK	Mevalonic aciduria 610377;Hyper-IgD syndrome 260920;Porokeratosis 3 disseminated superficial actinic 175900;
MYCN	Feingold syndrome 164280;
MYH9	Deafness autosomal dominant 17 603622;Epstein syndrome 153650;Fechtner syndrome 153640;Macrothrombocytopenia and progressive sensorineural deafness 600208;May-Hegglin anomaly 155100;Sebastian syndrome 605249;
MYO5A	Griscelli syndrome type 1 214450;
MYT1L	Mental retardation autosomal dominant 39 616521;
NAA10	N-terminal acetyltransferase deficiency 300855;
NAGA	Schindler disease type I 609241;Kanzaki disease 609242;Schindler disease type III 609241;
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920;
NALCN	Neuroaxonal neurodegeneration infantile with facial dysmophism 615419;
NBN	Aplastic anemia 609135;Leukemia acute lymphoblastic 613065;Nijmegen breakage syndrome 251260;
NDE1	Lissencephaly 4 (with microcephaly) 614019;
NDP	Norrie disease 310600;Exudative vitreoretinopathy X-linked 305390;
NDST1	Mental retardation autosomal recessive 46 616116;
NDUFA1	Mitochondrial complex I deficiency 252010;
NDUFA11	Mitochondrial complex I deficiency 252010;
NDUFA12	Leigh syndrome due to mitochondrial complex 1 deficiency 256000;
NDUFS1	Mitochondrial complex I deficiency 252010;
NDUFS2	Mitochondrial complex I deficiency 252010;
NDUFS3	Leigh syndrome due to mitochondrial complex I deficiency 256000;Mitochondrial complex I deficiency 252010;
NDUFS4	Leigh syndrome 256000;Mitochondrial complex I deficiency 252010;
NDUFS7	Leigh syndrome 256000;
NDUFS8	Leigh syndrome due to mitochondrial complex I deficiency 256000;
NDUFV1	Mitochondrial complex I deficiency 252010;
NEDD4L	No OMIM phenotype;Epilepsy photosensitive generalised (Dibbens (2007) Genes Brain Behav 6 750);Infantile spasms (Allen (2013) Nature 501 217);Impaired ENaC regulation (Fouladkou (2004) Am J Physiol Renal Physiol 287 F550);
NEU1	Sialidosis type I 256550;Sialidosis type II 256550;
NF1	Neurofibromatosis type 1 162200;Leukemia juvenile myelomonocytic 607785;Melanoma desmoplastic neurotrophic (2);Neurofibromatosis familial spinal 162210;Neurofibromatosis-Noonan syndrome 601321;Watson syndrome 193520;
NFATC1	No OMIM phenotype;Tricuspid atresia (Abdul-Sater (2012) PLoS One 7 e49532);Congenital heart disease (Glnessner (2014) Circ Res 115 884);
NFIA	No OMIM phenotype;Brain malformation and urinary tract defect (Negishi (2015) Hum Genome Var 2);Bipolar disorder & depression (Mikhail (2011) Am J Med Genet A 155 2386);Central nervous system malformations (Koehler (2010) Eur J Pediatr 169 463);
NFIX	Marshall-Smith syndrome 602535;Sotos syndrome 2 614753;
NHS	Nance-Horan syndrome 302350;Cataract 40 X-linked 302200;
NIPBL	Cornelia de Lange syndrome 1 122470;
NKX2-1	Goiter familial due to TTF-1 defect (1);Chorea hereditary benign 118700;Choreoathetosis hypothyroidism and neonatal respiratory distress 610978;
NLGN3	Asperger syndrome susceptibility X-linked 1 300494;Autism susceptibility X-linked 1 300425;
NLGN4X	Mental retardation X-linked 300495;Asperger syndrome susceptibility X-linked 2 300497;
NLRP3	Cold-induced autoinflammatory syndrome familial 120100;Muckle-Wells syndrome 191900;CINCA syndrome 607115;
NPHP1	Nephronophthisis 1 juvenile 256100;Senior-Loken syndrome-1 266900;Joubert syndrome 4 609583;
NR2F1	Bosch-Boonstra-Schaaf optic atrophy syndrome 615722;
NRAS	Autoimmune lymphoproliferative syndrome type IV 614470;Noonan syndrome 6 613224;Epidermal nevus somatic 162900;Thyroid carcinoma follicular somatic 188470;Colorectal cancer somatic 114500;
NRXN1	Pitt-Hopkins-like syndrome 2 614325;Schizophrenia susceptibility to 17 614332;
NSD1	Sotos syndrome 1 117550;Leukemia acute myeloid 601626 (1);Beckwith-Wiedemann syndrome 130650;
NSDHL	CHILD syndrome 308050;CK syndrome 300831;
NSUN2	Mental retardation autosomal recessive 5 611091;
NTRK1	Insensitivity to pain congenital with anhidrosis 256800;Medullary thyroid carcinoma familial 155240;
OCLN	Band-like calcification with simplified gyration and polymicrogyria 251290;
OCRL	Lowe syndrome 309000;Dent disease 2 300555;
ODC1	Colonic adenoma recurrence reduced risk of 114500;
OFD1	Oral-facial-digital syndrome 1 311200;Simpson-Golabi-Behmel syndrome type 2 300209;Joubert syndrome 10 300804;
OPHN1	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 300486;
ORC1	Meier-Gorlin syndrome 1 224690;
OTC	CGD Ornithine transcarbamylase deficiency 311250;
PACS1	Mental retardation autosomal dominant 17 615009;
PAFAH1B1	Lissencephaly 607432;Subcortical laminar heterotopia 607432;
PAH	Phenylketonuria 261600;[Hyperphenylalaninemia non-PKU mild] 261600;
PAK3	Mental retardation X-linked 30/47 300558;
PANK2	Neurodegeneration with brain iron accumulation 1 234200;HARP syndrome 607236;
PAX1	Orofaciocervical syndrome 2 615560;
PAX6	Aniridia 106210;Peters anomaly 604229;Cataract with late-onset corneal dystrophy 106210;Keratitis 148190;Foveal hyperplasia 136520;Morning glory disc anomaly 120430;Optic nerve hypoplasia 165550;
PAX8	Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia 218700;
PC	Pyruvate carboxylase deficiency 266150;
PCDH19	Epileptic encephalopathy early infantile 9 300088;
PCGF2	no OMIM phenotype;Developmental disorder (Fitzgerald (2015) Nature 519 223);
PCNT	Microcephalic osteodysplastic primordial dwarfism type II 210720;
PDE4D	Acrocydostosis 2 with or without hormone resistance 614613;Stroke susceptibility to 1 606799;
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency 312170;Leigh syndrome X-linked 308930;
PDSS1	Coenzyme Q10 deficiency primary 2 614651;
PDSS2	Coenzyme Q10 deficiency primary 3 614652;
PEPD	Prolidase deficiency 170100;
PEX1	Peroxisome biogenesis disorder 1A (Zellweger) 214100;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;
PEX10	Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871;
PEX11B	Peroxisome biogenesis disorder 14B 614920;
PEX12	Peroxisome biogenesis disorder 3A (Zellweger) 614859;Peroxisome biogenesis disorder 3B 266510;
PEX13	Peroxisome biogenesis disorder 11A (Zellweger) 614883;Peroxisome biogenesis disorder 11B 614885;
PEX16	Peroxisome biogenesis disorder 8A (Zellweger) 614876;Peroxisome biogenesis disorder 8B 614877;
PEX19	Peroxisome biogenesis disorder 12A (Zellweger) 614886;
PEX2	Peroxisome biogenesis disorder 5A (Zellweger) 614866;Peroxisome biogenesis disorder 5B 614867;
PEX26	Peroxisome biogenesis disorder 7A (Zellweger) 614872;Peroxisome biogenesis disorder 7B 614873;
PEX3	Peroxisome biogenesis disorder 10A (Zellweger) 614882;
PEX5	Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;
PEX6	Peroxisome biogenesis disorder 4A (Zellweger) 614862;Peroxisome biogenesis disorder 4B 614863;
PEX7	Rhizomelic chondrodysplasia punctata type 1 215100;Peroxisome biogenesis disorder 9B 614879;
PGAP1	Mental retardation autosomal recessive 42 615802;
PGAP2	Hyperphosphatasia with mental retardation syndrome 3 614207;
PGAP3	Hyperphosphatasia with mental retardation syndrome 4 615716;
PGK1	Phosphoglycerate kinase 1 deficiency 300653;
PHF6	Borjeson-Forssman-Lehmann syndrome 301900;
PHF8	Mental retardation syndrome X-linked Siderius type 300263;
PHGDH	Phosphoglycerate dehydrogenase deficiency 601815;
PHIP	No OMIM phenotype;Intellectual disability (de Ligt (2012) N Engl J Med 367 1921);Glaucoma primary congenital (Lee (2011) Mol Vis 17 3583);
PIGL	CHIME syndrome 280000;
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080;
PIGO	Hyperphosphatasia with mental retardation syndrome 2 614749;
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398;?Paroxysmal nocturnal hemoglobinuria 2 615399;
PIGV	Hyperphosphatasia with mental retardation syndrome 1 239300;
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 603387;
PLA2G6	Infantile neuroaxonal dystrophy 1 256600;Neurodegeneration with brain iron accumulation 2B 610217;Parkinson disease 14 612953;
PLCB1	Epileptic encephalopathy early infantile 12 613722;
PLP1	Pelizaeus-Merzbacher disease 312080;Spastic paraplegia 2 X-linked 312920;
PLXND1	No OMIM phenotype;Moebius syndrome (Tomas-Roca (2015) Nat Commun 6);Truncus arteriorus (Ta-Shma (2013) Am J Med Genet A 161 3115);Diabetic nephropathy association with (McKnight (2009) Hugo J 3 77);
PMM2	Congenital disorder of glycosylation type Ia 212065;
PNKP	Epileptic encephalopathy early infantile 10 613402;
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179;
POC1A	Short stature onychodysplasia facial dysmorphism and hypotrichosis 614813;
POGZ	Autism (Neale (2012) Nature 485 242);Intellectual disability (Gilissen (2014) Nature 511 344);Schizophrenia (Fromer (2014) Nature 506 179);
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome 607459;Progressive external ophthalmoplegia autosomal dominant 157640;
POLR3A	Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic;hypogonadism 607694;
POLR3B	Leukodystrophy hypomyelinating 8 with or without oligodontia and/or hypogonadotropic;hypogonadism 614381;
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 3 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 3 613151;
POMK	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 12 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 12 615249;
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 1 236670;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 1 613155;
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 2 613156;
PORCN	Focal dermal hypoplasia 305600;
POU1F1	Pituitary hormone deficiency combined 1 613038;
PPOX	Porphyria variegata 176200;
PPP2R1A	Mental retardation autosomal dominant 36 616362;
PPP2R5D	Mental retardation autosomal dominant 35 616355;
PPT1	Ceroid lipofuscinosis neuronal 1 256730;
PQBP1	Renpenning syndrome 309500;
PRODH	Hyperprolinemia type I 239500;Schizophrenia susceptibility to 4 600850;
PRPS1	Gout PRPS-related 300661;Phosphoribosylpyrophosphate synthetase superactivity 300661;Charcot-Marie-Tooth disease X-linked recessive 5 311070;Arts syndrome 301835;Deafness X-linked 1 304500;
PRSS12	Mental retardation autosomal recessive 1 249500;
PSAP	Metachromatic leukodystrophy due to SAP-b deficiency 249900;Gaucher disease atypical 610539;Combined SAP deficiency 611721;Krabbe disease atypical 611722;
PSEN1	Acne inversa familial 3 613737;Alzheimer disease type 3 607822;Alzheimer disease type 3 with spastic paraparesis and apraxia 607822;Alzheimer disease type 3 with spastic paraparesis and unusual plaques 607822;
PTCH1	Basal cell nevus syndrome 109400;Basal cell carcinoma somatic 605462;Holoprosencephaly-7 610828;
PTCHD1	Autism susceptibility to X-linked 4 300830;
PTDSS1	Lenz-Majewski hyperostotic dwarfism 151050;
PTEN	Cowden syndrome 1 158350;Lhermitte-Duclos syndrome 158350;Bannayan-Riley-Ruvalcaba syndrome 153480;Meningioma 607174;Glioma susceptibility 2 613028;Macrocephaly/autism syndrome 605309;
PTPN11	Noonan syndrome 1 163950;LEOPARD syndrome 1 151100;Leukemia juvenile myelomonocytic 607785;Metachondromatosis 156250;
PUF60	Verheij syndrome 615583;
PURA	Mental retardation autosomal dominant 31 616158;
PUS1	Mitochondrial myopathy and sideroblastic anemia 1 600462;
PYCR1	Cutis laxa autosomal recessive type IIB 612940;Cutis laxa autosomal recessive type IIIB 614438;
RAB18	Warburg micro syndrome 3 614222;
RAB27A	Griscelli syndrome type 2 607624;
RAB39B	Mental retardation X-linked 72 300271;
RAB3GAP1	Warburg micro syndrome 1 600118;
RAB3GAP2	Martsolf syndrome 212720;Warburg micro syndrome 2 614225;
RAB40AL	Mental retardation X-linked syndromic Martin-Probst type 300519;
RAC1	No OMIM phenotype;
RAD21	Cornelia de Lange syndrome 4 614701;
RAF1	Noonan syndrome 5 611553;LEOPARD syndrome 2 611554;
RAI1	Immunodeficiency 9 612782;Smith-Magenis syndrome 182290;
RARS2	Pontocerebellar hypoplasia type 6 611523;
RBM10	TARP syndrome 311900;
RBM28	Alopecia neurologic defects and endocrinopathy syndrome 612079;
RELN	Lissencephaly 2 (Norman-Roberts type) 257320;
REV3L	No OMIM phenotype;Moebius syndrome (Tomas-Roca (2015) Nat Commun 6);Psoriasis association with (Strange (2010) Nat Genet 42 985);Colorectal cancer increased risk association with (Webb (2006) Hum Mol Genet 15 3263);
RFT1	Congenital disorder of glycosylation type In 612015;
RHEB	No OMIM phenotype;
RIT1	Noonan syndrome 8 615355;
RMND1	Combined oxidative phosphorylation deficiency 11 614922;
RMRP	Anauxetic dysplasia 607095;Cartilage-hair hypoplasia 250250;Metaphyseal dysplasia without hypotrichosis 250460;
RNASEH2A	Aicardi-Goutieres syndrome 4 610333;
RNASEH2B	Aicardi-Goutieres syndrome 2 610181;
RNASEH2C	Aicardi-Goutieres syndrome 3 610329;
RNASET2	Leukoencephalopathy cystic without megalencephaly 612951;
ROGDI	Kohlschutter-Tonz syndrome 226750;
RPGRIP1L	Joubert syndrome 7 611560;Meckel syndrome 5 611561;COACH syndrome 216360;
RPL10	Autism susceptibility to X-linked 5 300847;
RPS6KA3	Coffin-Lowry syndrome 303600;Mental retardation X-linked 19 300844;
RTEL1	Dyskeratosis congenita autosomal dominant 4 615190;Dyskeratosis congenita autosomal recessive 5 615190;
SALL1	Townes-Brocks syndrome 107480;Townes-Brocks branchiootorenal-like syndrome 107480;
SATB2	Cleft palate and mental retardation 119540;
SC5D	Lathosterolosis 607330;
SCN1A	Epilepsy generalized with febrile seizures plus type 2 604403;Dravet syndrome 607208;Migraine familial hemiplegic 3 609634;Febrile seizures familial 3A 604403;
SCN2A	Seizures benign familial infantile 3 607745;Epileptic encephalopathy early infantile 11 613721;
SCN8A	Cognitive impairment with or without cerebellar ataxia 614306;Epileptic encephalopathy early infantile 13 614558;
SCO2	Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 1 604377;Myopia 6 608908;
SDHA	Leigh syndrome 256000;Mitochondrial respiratory chain complex II deficiency 252011;Cardiomyopathy dilated 1GG 613642;Paragangliomas 5 614165;
SERAC1	3-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome 614739;
SETBP1	Schinzel-Giedion midface retraction syndrome 269150;
SETD2	Luscan-Lumish syndrome 616831;
SETD5	Mental retardation autosomal dominant 24 615761;
SF1	No OMIM phenotype;
SGSH	Mucopolysaccharidisis type 3A (Sanfilippo A) 252900;
SHANK2	Autism susceptibility 17 613436;
SHANK3	Phelan-McDermid syndrome 606232;Schizophrenia 15 613950;
SHH	Holoprosencephaly-3 142945;Single median maxillary central incisor 147250;Microphthalmia with coloboma 5 611638;Schizencephaly 269160;
SHOC2	Noonan-like syndrome with loose anagen hair 607721;
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome 300434;
SIL1	Marinesco-Sjogren syndrome 248800;
SIN3A	No OMIM phenotype;Diaphragmatic hernia congenital (Yu (2015) Hum Mol Genet 24 4764);
SIX3	Holoprosencephaly-2 157170;Schizensephaly 269160;
SKI	Shprintzen-Goldberg syndrome 182212;
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy 218000;
SLC16A2	Allan-Herndon-Dudley syndrome 300523;
SLC17A5	Salla disease 604369;Sialic acid storage disorder infantile 269920;
SLC19A3	Thiamine metabolism dysfunction syndrome 2(biotin- or thiamine-responsive encephlopathy type;2) 607483;
SLC1A1	Dicarboxylic aminoaciduria 222730;?Schizophrenia susceptibility 18 615232;
SLC1A4	Spastic tetraplegia thin corpus callosum and progressive microcephaly 616657;
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970;
SLC25A22	Epileptic encephalopathy early infantile 3 609304;
SLC2A1	GLUT1 deficiency syndrome 1 606777;GLUT1 deficiency syndrome 2 612126;Epilepsy idiopathic generalized suscpetibility to 12 614847;Dystonia 9 601042;
SLC33A1	Spastic paraplegia 42 autosomal dominant 612539;Congenital cataracts hearing loss and neurodegeneration 614482;
SLC35A2	Congenital disorder of glycosylation type 2m 300896;
SLC35C1	Congenital disorder of glycosylation type IIc 266265;
SLC39A12	No OMIM phenotype;
SLC4A4	Renal tubular acidosis proximal with ocular abnormalities 604278;
SLC6A17	Mental retardation autosomal recessive 48 616269;
SLC6A3	Parkinsonism -dystonia infantile 613135;Nicotine dependence protection against 188890;
SLC6A8	Cerebral creatine deficiency syndrome 1 300352;
SLC7A7	Lysinuric protein intolerance 222700;
SLC9A6	Mental retardation X-linked syndromic Christianson type 300243;
SMAD4	Pancreatic cancer;Polyposis juvenile intestinal 174900;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050;Myhre syndrome 139210;
SMARCA2	Nicolaides-Baraitser syndrome 601358;
SMARCA4	Rhabdoid tumor predisposition syndrome 2 613325;Mental retardation autosomal dominant 16 614609;
SMARCB1	Rhabdoid tumors somatic 609322;Rhabdoid predisposition syndrome 1 609322;Mental retardation autosomal dominant 15 614608;
SMARCC2	No OMIM phenotype;Ivemark syndrome (Carss (2014) Hum Mol Genet 23 3269);Autism (Neale (2012) Nature 485 242);
SMARCE1	Meningioma familial susceptibility to 607174;
SMC1A	Cornelia de Lange syndrome 2 300590;
SMC3	Cornelia de Lange syndrome 3 610759;
SMOC1	Microphthalmia with limb anomalies 206920;
SMPD1	Niemann-Pick disease type A 257200;Niemann-Pick disease type B 607616;
SMS	Mental retardation X-linked Snyder-Robinson type 309583;
SNAP29	Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome 609528;
SNIP1	Psychomotor retardation epilepsy and craniofacial dysmorphism 614501;
SNX14	Spinocerebellar ataxia autosomal recessive 20 616354;
SOBP	Mental retardation anterior maxillary protrusion and strabismus 613671;
SON	No OMIM phenotype;Schizophrenia (Fromer (2014) Nature 506 179);Developmental delay seizure disorder macrocephaly and white matter abnormalities (Zhu (2015) Genet;Med);
SOS1	Fibromatosis gingival 135300;Noonan syndrome 4 610733;
SOX10	Waardenburg syndrome type 4C 613266;Waardenburg syndrome type 2E with or without neurologic involvement 611584;PCWH syndrome 609136;
SOX11	Mental retardation autosomal dominant 27 615866;
SOX2	Microphthalmia syndromic 3 206900;Optic nerve hypoplasia and abnormalities of the central nervous system 206900;
SOX3	Mental retardation X-linked with isolated growth hormone deficiency 300123;Panhypopituitarism X-linked 312000;
SOX5	Lamb-Shaffer syndrome 616803;
SPG11	Spastic paraplegia 11 autosomal recessive 604360;
SPRED1	Legius syndrome 611431;
SPTAN1	Epileptic encephalopathy early infantile 5;
SRCAP	Floating-Harbor syndrome 136140;
SRD5A3	Congenital disorder of glycosylation type Iq 612379;Kahrizi syndrome 612713;
SRPX2	Rolandic epilepsy mental retardation and speech dyspraxia 300643;
ST3GAL3	Mental retardation autosomal recessive 12 611090;Epileptic encephalopathy early infantile 15 615006;
ST3GAL5	Amish infantile epilepsy syndrome 609056;
STAG1	No OMIM phenotype;Intellectual disability nonsyndromic (Rauch (2012) Lancet epub);
STIL	Microcephaly 7 primary autosomal recessive 612703;
STRA6	Microphthalmia syndromic 9 601186;Microphthalmia isolated with coloboma 8 601186;
STT3A	Congenital disorder of glycosylation type Iw 615596;
STT3B	Congenital disorder of glycosylation type Ix 615597;
STX1B	Generalized epilepsy with febrile seizures plus type 9 616172;
STXBP1	Epileptic encephalopathy early infantile 4 612164;
SUCLA2	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);612073;
SUOX	Sulfite oxidase deficiency 272300;
SURF1	Leigh syndrome due to COX deficiency 256000;
SYN1	Epilepsy X-linked with variable learning disabilities and behavior disorders 300491;
SYNCRIP	No OMIM phenotype;Intellectual disability nonsyndromic (Rauch (2012) Lancet epub);
SYNE1	Emery-Dreifuss muscular dystrophy 4 autosomal dominant 612998;Spinocerebellar ataxia autosomal recessive 8 610743;
SYNGAP1	Mental retardation autosomal dominant 5 612621;
SYP	Mental retardation X-linked 96 300802;
SYT14	Spinocerebellar ataxia autosomal recessive 11 614229;
TAF2	Mental retardation autosomal recessive 40 615599;
TAT	Tyrosinemia type II 276600;
TBC1D24	Myoclonic epilepsy infantile familial 605021;Epileptic encephalopathy early infantile 16 615338;
TBC1D7	Macrocephaly/megalencephaly syndrome autosomal recessive 248000;
TBCE	Kenny-Caffey syndrome-1 244460;Hypoparathyroidism-retardation-dysmorphism syndrome 241410;
TBR1	No OMIM phenotype;Intellectual disability (Hamdan (2014) PLoS Genet 10);Autism (O'Roak (2012) Science 338 1619);Ventriculomegaly (Traylor (2012) Mol Syndromol 3 102);
TCF20	No OMIM phenotype;Autism spectrum disorder (Babbs (2014) J Med Genet 51 737);
TCF4	Pitt-Hopkins syndrome 610954;
TCF7L2	Diabetes mellitus type 2 susceptibility to 125853;
TECR	Mental retardation autosomal recessive 14 614020;
TFAP2A	Branchiooculofacial syndrome 113620;
TGFBR1	Loeys-Dietz syndrome type 1A 609192;Loeys-Dietz syndrome type 2A 608967;Multiple self-healing squamous epithelioma susceptiblity to 132800;
TGFBR2	Colorectal cancer hereditary nonpolyposis type 6 614331;Esophageal cancer somatic 133239;Loeys-Dietz syndrome type 1B 610168;Loeys-Dietz syndrome type 2B 610380;
TGIF1	Holoprosencephaly-4 142946;
TH	Segawa syndrome recessive 605407;
THOC6	Beaulieu-Boycott-Innes syndrome 613680;
THRB	Thyroid hormone resistance 188570;Thyroid hormone resistance autosomal recessive 274300;Thyroid hormone resistance selective pituitary 145650;
TIMM8A	Deafness X-linked 1 progressive;Mohr-Tranebjaerg syndrome 304700;Jensen syndrome 311150;
TLK2	No OMIM phenotype;Schizophrenia (Gulsuner (2013) Cell 154 518);
TMCO1	Craniofacial dysmorphism skeletal anomalies and mental retardation syndrome 614132;
TMEM165	Congenital disorder of glycosylation type IIk 614727;
TMEM231	Joubert syndrome 20 614970;Meckel syndrome type 11 615397;
TMEM237	Joubert syndrome 14 614424;
TMEM67	Meckel syndrome 3 607361;Joubert syndrome 6 610688;Bardet-Biedl syndrome 14 modifier of 209900;COACH syndrome 216360;Nephronophthisis 11 613550;
TMLHE	Epsilon-trimethyllysine hydrolylase deficiency 300872;
TPP1	Ceroid lipofuscinosis neuronal 2 204500;
TRAPPC11	Muscular dystrophy limb-girdle type 2S;
TRAPPC9	Mental retardation autosomal recessive 13 613192;
TREX1	Aicardi-Goutieres syndrome 1 dominant and recessive 225750;Chilblain lupus 610448;Vasculopathy retinal with cerebral leukodystrophy 192315;Systemic lupus erythematosus susceptibility to 152700;
TRIM32	Bardet-Biedl syndrome 11 615988;Muscular dystrophy limb-girdle type 2H 254110;
TRIO	No OMIM phenotype;Intellectual disability (de Ligt (2012) N Eng J Med 367 1921);Autism (Sanders (2012) Nature 485 237);
TRIP12	No OMIM phenotype;Autism (Iossifov (2012) Neuron 74 285);
TRMT10A	Microcephaly short stature and impaired glucose metabolism 616033;
TSC1	Tuberous sclerosis-1 191100;Lymphangioleiomyomatosis 606690;Focal cortical dysplasia Taylor balloon cell type 607341;
TSC2	Tuberous sclerosis-2 613254;Lymphangioleiomyomatosis somatic 606690;
TSEN54	Pontocerebellar hypoplasia type 2A 277470;Pontocerebellar hypoplasia type 4 225753;
TSPAN7	Mental retardation X-linked 58 300210;
TTC8	Bardet-Biedl syndrome 8 209900;Retinitis pigmentosa 51 613464;
TTI2	Mental retardation autosomal recessive 39 615541;
TUBA1A	Lissencephaly 3 611603;
TUBA8	Polymicrogyria with optic nerve hypoplasia 613180;
TUBB2B	Polymicrogyria symmetric or asymmetric 610031;
TUBB4A	Dystonia 4 torsion autosomal dominant 128101;Leukodystrophy hypomyelinating 612438;
TUBGCP6	Microcephaly and chorioretinopathy autosomal recessive 1 251270;
TUSC3	Mental retardation autosomal recessive 7 611093;
TWIST1	Craniosynostosis type 1 123100;Robinow-Sorauf syndrome 180750;Saethre-Chotzen syndrome 101400;Saethre-Chotzen syndrome with eyelid anomalies 101400;
UBE2A	Mental retardation X-linked syndromic Nascimento-type 300860;
UBE3A	Angelman syndrome 105830;
UBE3B	Blepharophimosis-ptosis-intellectual disability syndrome 615057;
UBR1	Johanson-Blizzard syndrome 243800;
UPB1	Beta-ureidopropionase deficiency 613161;
UPF3B	Mental retardation X-linked syndromic 14 300676;
USP7	No OMIM phenotype;Autism spectrum disorder (Levy (2011) Neuron 70 886);
USP9X	Mental retardation X-linked 99 300919;
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050;
VPS13B	Cohen syndrome 216550;
VRK1	Pontocerebellar hypoplasia type 1A 607596;
WAC	Desanto-Shinawi syndrome 616708;
WDR13	No OMIM phenotype;Intellectual disability X-linked (Whibley (2010) Am J Hum Genet 87 173);
WDR19	Nephronophtisis 13 614377;Senior-Loken syndrome 8 616307;?Cranioectodermal dysplasia 4 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly 614376;
WDR45	Neurodegeneration with brain iron accululation 5 300894;
WDR62	Microcephaly 2 primary autosomal recessive with or without cortical malformations 604317;
WDR73	Galloway-Mowat syndrome 251300;
WDR81	Cerebellar ataxia mental retardation and dysequilibrium syndrome 2 610185;
WWOX	Epileptic encephalopathy early infantile 28 616211;Esophageal squamous cell carcinoma somatic 133239;Spinocerebellar ataxia autosomal recessive 12 614322;
XPA	Xeroderma pigmentosum group A 278700;
XPNPEP3	Nephronophthisis-like nephropathy 1 613159;
XYLT1	Desbuquois dysplasia 2 615777;Pseudoxanthoma elasticum modifier of severity of 264800;
YAP1	Coloboma ocular with or without hearing impairment cleft lip/palate and mental retardation 12043;
YWHAE	No OMIM phenotype;Develomental delay facial dysmorphology and growth retardation (Enomoto (2012) Am J Med Genet A;158A);Developmental delay and mild brain structural abnormalities (Bi (2009) Nat Genet 41 168);
YY1	No OMIM phenotype;Mental retardation (Vissers (2010) Nat Genet 42 1109);
ZBTB16	Leukemia acute promyelocytic PL2F/RARA type;Skeletal defects genital hypoplasia and mental retardation 612447;
ZBTB18	Mental retardation autosomal dominant 22 612337;
ZDHHC15	Mental retardation X-linked 91 300577;
ZDHHC9	Mental retardation X-linked syndromic Raymond type 300799;
ZEB2	Mowat-Wilson syndrome 235730;
ZFYVE26	Spastic paraplegia 15 autosomal recessive 270700;
ZIC2	Holoprosencephaly-5 609637;
ZMYND11	Mental retardation autosomal dominant 30 616083;
ZNF292	No OMIM phenotype;Autism (Neale (2012) Nature 485 242);
ZNF41	Mental retardation X-linked 89 300848;
ZNF592	Spinocerebellar ataxia autosomal recessive 5 606937;
ZNF674	Mental retardation X-linked 92 300851;
ZNF711	Mental retardation X-linked 97 300803;
ZNF81	Mental retardation X-linked 45 300498;