INTELLECTUAL DISABILITY GENE PANEL DG 2.5.x

Transcription

1 INTELLECTUAL DISABILITY GENE PANEL DG 2.5.x Gene Median % covered % covered Associated phenotype description and OMIM disease ID coverage > 10x > 20x A2ML % 99% Noonan-like syndrome (Vissers et al. 2015) ABCC % 97% Cardiomyopathy, dilated, 1O, Atrial fibrillation, familial, 12, Hypertrichotic osteochondrodysplasia, ABCD % 74% Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, ABCD % 99% Methylmalonic aciduria and homocystinuria, cblj type, ABHD % 95% Chanarin-Dorfman syndrome, ACAD % 100% ACAD9 deficiency, ACO % 83% Infantile cerebellar-retinal degeneration, ACOX % 94% Peroxisomal acyl-coa oxidase deficiency, ACSF % 100% Combined malonic and methylmalonic aciduria, ACSL % 98% Mental retardation, X-linked 63, ACTB % 95% Dystonia, juvenile-onset, Baraitser-Winter syndrome 1, ACTG % 87% Deafness, autosomal dominant 20/26, Baraitser-Winter syndrome 2, ACVR % 98% Fibrodysplasia ossificans progressiva, ACY % 96% Aminoacylase 1 deficiency, ADAR % 98% Dyschromatosis symmetrica hereditaria, Aicardi-Goutieres syndrome 6, ADAT % 94% Mental retardation, autosomal recessive 36, ADCK % 97% Coenzyme Q10 deficiency, primary, 4, ADK % 94% Hypermethioninemia due to adenosine kinase deficiency, ADNP % 100% Mental retardation, autosomal dominant, 28, ADSL % 99% ade(-)i bifunctional Adenylosuccinase deficiency, AFF % 99% Mental retardation, X-linked, FRAXE type, AGA % 91% Aspartylglucosaminuria,

2 AGO % 95% No OMIM phenotype AGPAT % 85% Lipodystrophy, congenital generalized, type 1, AHCY 77 91% 69% Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHDC % 96% Xia-Gibbs syndrome, AHI % 98% Joubert syndrome-3, AIFM % 99% Combined oxidative phosphorylation deficiency 6, Cowchock syndrome, AIMP % 100% Leukodystrophy, hypomyelinating, 3, AK % 99% Hemolytic anemia due to adenylate kinase deficiency, AKT % 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, ALDH18A % 95% Cutis laxa, autosomal recessive, type IIIA, ALDH3A % 100% Sjogren-Larsson syndrome, ALDH4A % 89% Hyperprolinemia, type II, ALDH5A % 89% Succinic semialdehyde dehydrogenase deficiency, ALG % 45% Congenital disorder of glycosylation, type Ik, ALG % 97% Congenital disorder of glycosylation, type Ig, ALG % 95% Congenital disorder of glycosylation, type Is, ALG % 90% Congenital disorder of glycosylation, type Ii, ALG % 90% Congenital disorder of glycosylation, type Id, ALG % 99% Congenital disorder, type Ic, ALG % 98% Congenital disorder of glycosylation, type Il, ALX % 100% Frontonasal dysplasia 3, ALX % 99% Parietal foramina 2, Frontonasal dysplasia 2, AMPD % 92% Pontocerebellar hypoplasia, type 9, ?Spastic paraplegia 63, AMT % 100% Glycine encephalopathy, ANK % 99%?Mental retardation, autosomal recessive, 37 ANKH % 100% Craniometaphyseal dysplasia, Chondrocalcinosis 2, ANKRD % 86% KBG syndrome, ANO % 98% Spinocerebellar ataxia, autosomal recessive 10,

3 ANTXR % 90% GAPO syndrome, {Hemangioma, capillary infantile, susceptibility to}, AP1S % 76% Mental retardation, X-linked syndromic, Fried type, AP3B % 99% Hermansky-Pudlak syndrome 2, AP4B % 100% Spastic paraplegia 47, autosomal recessive, AP4E % 99% Spastic paraplegia 51, autosomal recessive, AP4M % 99% Spastic paraplegia 50, autosomal recessive, AP4S % 88% Spastic paraplegia 52, autosomal recessive, APTX % 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, ARFGEF % 99% Periventricular heterotopia with microcephaly, ARG % 90% Argininemia, ARHGEF % 94% Mental retardation, X-linked 46, ARHGEF % 95% Epileptic encephalopathy, early infantile, 8, ARID1A % 96% Mental retardation, autosomal dominant 14, ARID1B % 96% Mental retardation, autosomal dominant 12, ARID % 100% No OMIM phenotype Intellectual disability (Shang (2015) Neurogenetics epub) Schizophrenia (Fromer (2014) Nature 506,179) ARL13B % 98% Joubert syndrome 8, ARL % 100% Bardet-Biedl syndrome 3, {Bardet-Biedl syndrome 1, modifier of}, Retinitis pigmentosa 55, ARSE 82 95% 87% Chondrodysplasia punctata, X-linked recessive, ARX 61 80% 73% Epileptic encephalopathy, early infantile, 1, Lissencephaly, X-linked 2, Mental retardation, X-linked 29 and others, Proud syndrome, Partington syndrome, ASL 73 97% 93% Argininosuccinic aciduria, ASNS 60 92% 83% Asparagine synthetase deficiency, ASPA % 100% Canavan disease, ASPM % 99% Microcephaly 5, primary, autosomal recessive,

4 ASXL % 97% Bohring-Opitz syndrome, Myelodysplastic syndrome, somatic, ASXL % 99% Bainbridge-Ropers syndrome, ATIC % 97% AICA-ribosiduria due to ATIC deficiency, ATP1A % 98% Migraine, familial hemiplegic, 2, Alternating hemiplegia of childhood, Migraine, familial basilar, ATP2A % 100% Darier disease, Acrokeratosis verruciformis, ATP6AP % 91% Mental retardation, X-linked, with epilepsy, ATP6V0A % 99% Cutis laxa, autosomal recessive, type IIA, Wrinkly skin syndrome, ATP7A % 100% Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3, ATP8A % 99%?Cerebellar ataxia, mental retardation and dysequilibrium syndrome 4, ATR % 99% Seckel syndrome 1, Cutaneous telangiectasia and cancer syndrome, familial, ATRX % 100% Alpha-thalassemia/mental retardation syndrome, Alpha-thalassemia myelodysplasia syndrome, somatic, Mental retardation-hypotonic facies syndrome, X-linked, AUH % 90% 3-methylglutaconic aciduria, type I, AUTS % 96% Mental Retardation, autosomal dominant 26, B3GALTL % 96% Peters-plus syndrome, B4GALT % 97% Congenital disorder of glycosylation, type IId, B4GALT % 96% Ehlers-Danlos syndrome, progeroid type, 1, BBS % 99% Bardet-Biedl syndrome 1, BBS % 100% Bardet-Biedl syndrome 10, BBS % 100% Bardet-Biedl syndrome 12, BBS % 100% Bardet-Biedl syndrome 2, BBS % 98% Bardet-Biedl syndrome 4, BBS % 100% Bardet-Biedl syndrome 5, BBS % 99% Bardet-Biedl syndrome 7, BBS % 98% Bardet-Biedl syndrome 9,

5 BCKDHA % 99% Maple syrup urine disease, type Ia, BCKDHB 87 99% 83% Maple syrup urine disease, type Ib, BCL11A % 100% 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 % 99% Microphthalmia, syndromic 2, BCS1L % 100% Mitochondrial complex III deficiency, nuclear type 1, Leigh syndrome, Bjornstad syndrome, GRACILE syndrome, BLM % 98% Bloom syndrome, BRAF % 97% Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, Noonan syndrome 7, LEOPARD syndrome 3, BRWD % 99% Mental retardation, X-linked 93, BSCL % 100% Lipodystrophy, congenital generalized, type 2, Silver spastic paraplegia syndrome, Neuropathy, distal hereditary motor, type V, BTD % 100% Biotinidase deficiency, BUB1B % 99% Colorectal cancer, somatic, Mosaic variegated aneuploidy syndrome 1, [Premature chromatid separation trait], C12orf % 97% Temtamy syndrome, C12orf % 100% Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55,autosomal recessive, C2CD3 0% 0%?Orofaciodigital syndrome XIV, C5orf % 99% Joubert syndrome 17, CA % 100% Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, CA % 100% Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3,

6 CACNG % 100% Mental retardation, autosomal dominant 10, CAMTA % 95% Cerebellar ataxia, nonprogressive, with mental retardation, CASK % 100% Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome 4, Mental retardation, with or without nystagmus, CBL % 100% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, CBS 76 99% 81% Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic, CC2D1A % 98% Mental retardation, autosomal recessive 3, CC2D2A 91 98% 97% Joubert syndrome 9, Meckel syndrome 6, COACH syndrome, CCBE % 88% Hennekam lymphangiectasia-lymphedema syndrome, CCDC % 100% Myopathy, centronuclear, 4, CDH % 95% Mental retardation, autosomal dominant 3, CDK5RAP % 96% Microcephaly 3, primary, autosomal recessive, CDKL % 99% Epileptic encephalopathy, early infantile, 2, Angelman syndrome-like, CDON % 97% Holoprosencephaly 11, CENPJ % 100% Microcephaly 6, primary, autosomal recessive, Seckel syndrome 4, CEP % 98% Microcephaly 8, primary, autosomal recessive, CEP % 99% Microcephaly 9, primary, autosomal recessive, Seckel syndrome 5, CEP % 98% Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10, Meckel syndrome 4, Bardet-Biedl syndrome 14, CEP % 100% Joubert syndrome 15, CHAMP % 100% Mental retardation,autosomal dominant 40, CHD % 98% Epileptic encephalopathy, childhood-onset,

7 CHD % 99% CHARGE syndrome, {Scoliosis, idiopathic 3}, Hypogonadotropic hypogonadism 5 with or without anosmia, CHD % 99% {Autism, susceptibility to, 18}, CHKB 77 91% 90% Muscular dystrophy, congenital, megaconial type, CLCNKB 74 88% 84% Bartter syndrome, type 3, Bartter syndrome, type 4b, digenic, CLIC % 88% Mental retardation, X-linked, syndromic 32, CLN % 95% Ceroid lipofuscinosis, neuronal, 3, CLN % 93% Ceroid lipofuscinosis, neuronal, 5, CLN % 83% Ceroid lipofuscinosis, neuronal, 6, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, CLN % 100% Ceroid lipofuscinosis, neuronal, 8, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, CNKSR % 99% No OMIM phenotype Intellectual disability,x-linked non syndromic (Vaags (2014) Ann Neurol 76,758) CNTNAP % 98% Cortical dysplasia-focal epilepsy syndrome, {Autism susceptibility 15}, Pitt-Hopkins like syndrome 1, COG % 97% Congenital disorder of glycosylation, type IIg, COG % 96% Congenital disorder of glycosylation, type 2l, Shaheen syndrome, COG % 94% Congenital disorder of glycosylation, type IIe, COG % 100% Congenital disorder of glycosylation, type IIh, COL4A % 95% Porencephaly 1, Brain small vessel disease with hemorrhage, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, Brain small vessel disease with Axenfeld-Rieger anomaly, COL4A % 97% Porencephaly 2, {Hemorrhage, intracerebral, susceptibility to}, COL4A3BP % 100% Mental retardation, autosomal dominant 34, COLEC % 100% 3MC syndrome 2, COQ % 85% Coenzyme Q10 deficiency, primary, 1, {Multiple system atrophy, susceptibility to},

8 COQ % 78% Coenzyme Q10 deficiency,primary,7, COX % 93% Leigh syndrome due to mitochondrial COX4 deficiency, Mitochondrial complex IV deficiency, COX % 98% Leigh syndrome due to cytochrome c oxidase deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, CPS % 100% Carbamoylphosphate synthetase I deficiency, {Pulmonary hypertension, neonatal, susceptibility to}, {Venoocclusive disease after bone marrow transplantation} CRADD 98 81% 77% Mental retardation, autosomal recessive 34, CRBN % 100% Mental retardation, autosomal recessive 2, CREBBP 78 99% 97% Rubinstein-Taybi syndrome, CSNK2A % 83% No OMIM phenotype Glaucoma, primary congenital (Lee (2011) Mol Vis 17,3583) CTCF % 99% Mental retardation, autosomal dominant 21, CTDP % 86% Congenital cataracts, facial dysmorphism, and neuropathy, CTNNB % 97% Mental retardation, autosomal dominant 19, Colorectal cancer, somatic, Hepatocellular carcinoma, somatic, Ovarian cancer, somatic, Pilomatricoma, somatic, CTNND % 96% No OMIM phenotype Autism? (O'Roak (2012) Nature 485,246) CTSA % 99% Galactosialidosis, CTSD % 97% Ceroid lipofuscinosis, neuronal, 10, CTTNBP % 97% No OMIM phenotype Autism? (Iossifov (2012) Neuron 74,285) CUBN 83 98% 94% Megaloblastic anemia-1, Finnish type, CUL4B % 98% Mental retardation, X-linked, syndromic 15 (Cabezas type), CYB5R % 90% Methemoglobinemia, type I, Methemoglobinemia, type II, D2HGDH 64 96% 86% D-2-hydroxyglutaric aciduria, DARS % 99% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, DBT % 100% Maple syrup urine disease, type II, DCAF % 95% Woodhouse-Sakati syndrome,

9 DCPS 0% 0% Al-Raqad syndrome, DCX % 100% Lissencephaly, X-linked, Subcortical laminal heteropia, X-linked, DDHD % 100% Spastic paraplegia 54, autosomal recessive, DDX % 12% Warsaw breakage syndrome, DDX3X % 97% Mental retardation,x-linked 102, DEAF % 80% Mental retardation, autosomal dominant 24, DHCR % 97% Desmosterolosis, DHCR % 98% Smith-Lemli-Opitz syndrome, DHFR 51 79% 63% Megaloblastic anemia due to dihydrofolate reductase deficiency, DHTKD % 99% 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease, axonal, type 2Q, DIAPH % 89% Deafness,autosomal dominant 1, Seizures,cortical blindness,microcephaly syndrome, DIP2B % 97% Mental retardation, FRA12A type, DKC % 98% Dyskeratosis congenita, X-linked, DLD % 100% Dihydrolipoamide dehydrogenase deficiency, DLG % 91% Mental retardation, X-linked 90, DLG % 96% no OMIM phenotype Autism spectrum disorder (An (2014) Transl Psychiatry 4,e394) DMD % 99% Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, DMPK % 96% Myotonic dystrophy 1, DNAJC % 78% 3-methylglutaconic aciduria, type V, DNM % 80% Epileptic encephalopathy,early infantile,31, DNMT3A 78 99% 96% Tatton-Brown-Rahman syndrome, DNMT3B % 97% Immunodeficiency-centromeric instability-facial anomalies syndrome 1, DOCK % 98% Mental retardation, autosomal dominant 2, Hyper-IgE recurrent infection syndrome, autosomal recessive, DPAGT % 95% Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, with tubular aggregates 2, DPM % 90% Congenital disorder of glycosylation, type Ie,

10 DPP % 91% Mental retardation, autosomal dominant 33, {Ventricular fibrillation, paroxysmal familial, 2} DPYD % 97% Dihydropyrimidine dehydrogenase deficiency, fluorouracil toxicity, DST % 99% Neuropathy, hereditary sensory and autonomic, type VI, Epidermolysis bullosa simplex, sutosomal recessive 2, DYM 91 97% 97% Dyggve-Melchior-Clausen disease, Smith-McCort dysplasia, Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, DYNC1H % 97% Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant, AD, DYRK1A % 98% Mental retardation, autosomal dominant 7, EBP 96 99% 95% Chondrodysplasia punctata, X-linked dominant, EDC % 98%?Mental retardation, autosomal recessive 50, EEF1A % 100% Epileptic encephalopathy, early infantile,33, Mental retardation,autosomal dominant 38, EFTUD % 98% Mandibulofacial dysostosis, Guion-Almeida type, EHMT % 93% Kleefstra syndrome, EIF2AK % 91% Wolcott-Rallison syndrome, EIF4G % 98% Parkinsons disease 18, ELOVL % 100% Stargardt disease 3, Macular dystrophy, autosomal dominant, chromosome 6-linked, Ichthyosis, spastic quadriplegia, and mental retardation, EMX % 100% Schizencephaly, EP % 97% Colorectal cancer, somatic, Rubinstein-Taybi syndrome 2, EPB41L % 95% Mental retardation, autosomal dominant 11, ERCC % 93% Xeroderma pigmentosum, group D, Trichothiodystrophy, Cerebrooculofacioskeletal syndrome 2, ERCC % 100% Xeroderma pigmentosum, group B, Trichothiodystrophy, ERCC % 97% Xeroderma pigmentosum, group G,

11 Xeroderma pigmentosum, group G/Cockayne syndrome, ERCC % 97% Cockayne syndrome, type B, Cerebrooculofacioskeletal syndrome 1, De Sanctis-Cacchione syndrome, {Macular degeneration, age-related, susceptibility to 5}, UV-sensitive syndrome 1, {Lung cancer, su ERCC % 98% Cockayne syndrome, type A, UV-sensitive syndrome 2, ERLIN % 99% Spastic paraplegia 18, autosomal recessive, ESCO % 99% Roberts syndrome, SC phocomelia syndrome, ETFB % 100% Glutaric acidemia 2B, ETHE % 89% Ethylmalonic encephalopathy, EXOSC % 69% Pontocerebellar hypoplasia, type 1B, EZH % 94% Weaver syndrome, FAM126A % 100% Leukodystrophy, hypomyelinating, 5, FBN % 98% Marfan syndrome, Ectopia lentis, familial, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Aortic aneurysm, ascending, and dissection Stiff skin syndrome, Acromicric dysplasia, FBXO % 90% Mental retardation, autosomal recessive 45, FGD % 95% Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16, FGFR % 97% Pfeiffer syndrome, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Trigonocephaly 1, Hartsfield syndrome,

12 FGFR % 97% Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, Saethre-Chotzen syndrome, Craniosynostosis, nonspecific FGFR % 87% Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, type I, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Bladder cancer, somatic, Colorectal cancer, somatic, 1 FH 85 96% 89% Fumarase deficiency, Leiomyomatosis and renal cell cancer, FIGN % 100% No OMIM phenotype FKRP 80 99% 98% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital w/wo mental retardation), type B, 5, FKTN % 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Cardiomyopathy, dilated, 1X, FLNA % 99% Heterotopia, periventricular, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Intestinal pseudoobstruction, neuronal, Melnick-Needles syndrome, FLVCR % 100% Ataxia, posterior column, with retinitis pigmentosa, FMN % 84% Mental retardation, autosomal recessive 47, FMR % 100% Fragile X syndrome, Fragile X tremor/ataxia syndrome, Premature ovarian failure 1, FOXG % 78% Rett syndrome, congenital variant, FOXP % 99% Mental retardation with language impairment and autistic features,

13 FOXP % 100% Speech-language disorder-1, FRAS % 95% Fraser syndrome, FTO % 97% Growth retardation, developmental delay, coarse facies, and early death, FTSJ % 87% Mental retardation, X-linked 9, FUCA % 99% Fucosidosis, GABRA % 96% Epileptic encephalopathy, early infantile, 19, {Epilepsy, childhood absence, susceptibility to, 4} {Epilepsy, juvenile myoclonic, susceptibility to, 5}, GAD % 98% Cerebral palsy, spastic quadriplegic, 1, GALE % 100% Galactose epimerase deficiency, GALT % 100% Galactosemia, GAMT % 93% Cerebral creatine deficiency syndrome 2, GATAD2B % 97% Mental retardation, autosomal dominant 18, GATM 82 98% 89% Cerebral creatine deficiency syndrome 3, GCH % 100% Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Hyperphenylalaninemia, BH4-deficient, B, GCSH 12 51% 33% Glycine encephalopathy, GDI % 100% Mental retardation, X-linked 41, GFAP % 96% Alexander disease, GJB % 100% Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, GJC % 82% Leukodystrophy, hypomyelinating, 2, Spastic paraplegia 44, autosomal recessive, Lymphedema, hereditary, IC, GK 50 90% 80% Glycerol kinase deficiency, GLB % 95% GM1-gangliosidosis, type I, GM1-gangliosidosis, type II, GM1-gangliosidosis, type III, Mucopolysaccharidosis type IVB (Morquio), GLDC 58 97% 85% Glycine encephalopathy, GLI % 95% Holoprosencephaly-9, GLI % 100% Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly, preaxial, type IV, Polydactyly, postaxial, types A1 and B,

14 {Hypothalamic hamartomas, somatic}, GM2A % 100% GM2-gangliosidosis, AB variant, GMPPA % 100% Alacrima, achalasia and mental retardation syndrome, GMPPB % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A,14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, GNAO % 98% Epileptic encephalopathy, early infantile, 17, GNAS % 97% Pseudohypoparathyroidism Ia, McCune-Albright syndrome, Pseudohypoparathyroidism Ic, Osseous heteroplasia, progressive, Pseudohypoparathyroidism Ib, GNPAT % 100% Chondrodysplasia punctata, rhizomelic, type 2, GNS 79 97% 89% Mucopolysaccharidosis type IIID, GPC % 100% Simpson-Golabi-Behmel syndrome, type 1, Wilms tumor, somatic, GPHN % 100% Molybdenum cofactor deficiency, type C, GPR % 98% Polymicrogyria, bilateral frontoparietal, GPT % 85%?Mental retardation, autosomal recessive 49, GRIA % 97% Mental retardation, X-linked 94, GRID % 99% Spinocerebellar ataxia, autosomal recessive 18, GRIK % 96% Mental retardation, autosomal recessive, 6, GRIN % 96% Mental retardation, autosomal dominant 8, GRIN2A % 99% Epilepsy with neurodevelopmental defects, GRIN2B % 98% Mental retardation, autosomal dominant 6, GRIN3B 62 80% 70% No OMIM phenotype Schizophrenia, increased risk,association with (Matsuno (2015) PLoS One 10,e ) GRM % 96% Spinocerebellar ataxia, autosomal recessive 13, GSE % 89% No OMIM phenotype Autism (Sanders (2012) Nature 485,237) GSS 84 98% 97% Hemolytic anemia due to glutathione synthetase deficiency, GTF2H % 100% Trichothiodystrophy, complementation group A, GUSB 68 89% 80% Mucopolysaccharidosis VII, HACE1 0% 0% Spastic paraplegia and psychomotor retardation with or without seizures, HAX % 100% Neutropenia, severe congenital 3, autosomal recessive,

15 HCCS % 99% Microphthalmia, syndromic 7, HCFC % 94% Mental retardation, X-linked 3, HCN % 99% Epileptic encephalopathy, early infantile, 24, HDAC % 90% Brachydactyly-mental retardation syndrome, HDAC % 94% Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, HDAC % 99% Wilson-Turner syndrome, Cornelia de Lange syndrome 5, HECTD % 99% No OMIM phenotype HERC % 97% No OMIM phenotype Overgrowth,intellectual disability and facial dysmorfism (Ortega-Recalde (2015) Clin Genet 88,e1) HERC % 59% Mental retardation, autosomal recessive 38, [Skin/hair/eye pigmentation 1, blond/brown hair], [Skin/hair/eye pigmentation 1, blue/nonblue eyes], HESX % 95% Septooptic dysplasia, Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, HEXA % 100% Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], HEXB % 100% Sandhoff disease, infantile, juvenile, and adult forms, HIVEP % 100% No OMIM phenotype Intellectual disability,nonsyndromic (Rauch (2012) Lancet epub) HLCS % 100% Holocarboxylase synthetase deficiency, HNMT 0% 0% Mental retardation,autosomal recessive 51, {Asthma,susceptibility to}, HOXA % 100% Bosley-Salih-Alorainy syndrome, Athabaskan brainstem dysgenesis syndrome, HPD % 98% Tyrosinemia, type III, Hawkinsinuria, HPRT % 98% Lesch-Nyhan syndrome,

16 HRAS % 100% {Bladder cancer, somatic}, Costello syndrome, {Thyroid carcinoma, follicular, somatic}, Congenital myopathy with excess of muscle spindles, {Nevus sebaceous, somatic}, HSD17B % 92% 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, X-linked syndromic 10, Mental retardation, X-linked 17/31, microduplication, HSPD % 41% Spastic paraplegia 13, autosomal dominant, Leukodystrophy, hypomyelinating, 4, HUWE % 97% Mental retardation, X-linked syndromic, Turner type, IDS 97 90% 84% Mucopolysaccharidosis II, IDUA 78 95% 90% Mucopolysaccharidosis Ih, Mucopolysaccharidosis Is, Mucopolysaccharidosis Ih/s, IER3IP % 93% Microcephaly, epilepsy, and diabetes syndrome, IFT % 97% Short-rib thoracic dysplasia 10 with or without polydactyly, IGBP % 88% Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, IGF % 96% Growth retardation with deafness and mental retardation due to IGF1 deficiency, IKBKG 26 26% 26% Incontinentia pigmenti, type II, Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, isolated, IL1RAPL % 100% Mental retardation, X-linked 21/34, INPP5E 68 98% 94% Mental retardation, truncal obesity, retinal dystrophy, and micropenis, Joubert syndrome 1, IQSEC % 87% Mental retardation, X-linked 1, ISPD 84 97% 94% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, ITPR % 98% Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, congenital nonprogressive, JAG % 97% Alagille syndrome, Deafness, congenital heart defects and posterior embryotoxon Tetralogy of Fallot, JAM % 91% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,

17 KANK % 99% Cerebral palsy, spastic quadriplegic, 2, KANSL % 86% Koolen-De Vries syndrome, KAT6A % 97% Mental retardation, autosomal dominant 32, KAT6B % 100% SBBYSS syndrome, Genitopatellar syndrome, KCNC % 65% Spinocerebellar ataxia 13, KCNH % 99% Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, KCNJ % 100% SESAME syndrome, Enlarged vestibular aqueduct, digenic, KCNJ % 100% Hyperinsulinemic hypoglycemia, familial, 2, Diabetes, permanent neonatal, Diabetes mellitus, permanent neonatal, with neurologic features, {Diabetes mellitus, type 2, susceptibility to}, KCNK % 100% Birk-Barel mental retardation dysmorphism syndrome, KCNQ % 96% Seizures, benign neonatal, 1, Myokymia, Epileptic encephalopathy, early infantile, 7, KCNQ % 96% No OMIM phenotype Schizophrenia (Fromer (2014) Nature 506,179) KCNT % 92% Epileptic encephalopathy, early infantile, 14, Epilepsy, nocturnal frontal lobe, 5, KCTD % 68% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, KDM1A 0% 0% Cleft palate,psychomotor retardation,and distinctive facial features, KDM5C % 100% Mental retardation, X-linked, syndromic, Claes-Jensen type, KDM6A % 99% Kabuki syndrome 2, KIAA % 97%?Spinocerebellar ataxia, autosomal recessive 15, KIAA % 98%?Mental retardation, autosomal recessive 43, KIAA % 98% 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) KIAA % 97% Goldberg-Shprintzen megacolon syndrome, KIAA % 100% Mental retardation, X-linked 98,

18 KIF % 98% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, KIF1A 69 99% 92% Spastic paraplegia 30, autosomal recessive, Neuropathy, hereditary sensory, type IIC, Mental retardation, autosomal dominant 9, KIF4A % 93%?Mental retardation,x-linked 100, KIF5C 80 97% 91% Cortical dysplasia, complex, with other brain malformations 2, KIF % 82% Hydrolethalus syndrome 2, Acrocallosal syndrome, Joubert syndrome 12, KIRREL % 96% Mental retardation, autosomal dominant 4, KMT2A % 98% Leukemia, myeloid/lymphoid or mixed-lineage, Wiedemann-Steiner syndrome, KMT2D % 98% Kabuki syndrome 1, KPTN % 98% Mental retardation, autosomal recessive 41, KRAS 65 95% 89% Noonan syndrome 3, Bladder cancer, somatic, Breast cancer, somatic, Cardiofaciocutaneous syndrome 2, Gastric cancer, somatic, Lung cancer, somatic, Pancreatic carcinoma, somatic, KRBOX % 100% No OMIM phenotype nonsyndromic X-linked mental retardation (Lugtenberg et al. 2006) L1CAM % 99% Hydrocephalus due to aqueductal stenosis, MASA syndrome, CRASH syndrome, Hydrocephalus with Hirschsprung disease, Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, L2HGDH 75 94% 91% L-2-hydroxyglutaric aciduria, LAMA % 96% Poretti-Boltshauser syndrome, LAMA % 97% Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, LAMC % 93% Cortical malformations, occipital, LAMP % 99% Danon disease,

19 LARGE 97 97% 92% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, LARP % 100% Alazami syndrome, LIG % 100% LIG4 syndrome, {Multiple myeloma, resistance to}, Severe combined immunodeficiency with sensitivity to ionizing radiation, LINS % 100% Mental retardation, autosomal recessive 27, LRP % 98% Donnai-Barrow syndrome, LRPPRC % 97% Leigh syndrome, French-Canadian type, MAGEL % 100% Prader-Willi-like syndrome, MAGT % 98% Mental retardation, X-linked 95, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MAN1B % 99% Mental retardation, autosomal recessive 15, MAN2B % 92% Mannosidosis, alpha-, types I and II, MANBA % 99% Mannosidosis, beta, MAOA % 100% Brunner syndrome, MAP2K % 81% Cardiofaciocutaneous syndrome 3, MAP2K % 98% Cardiofaciocutaneous syndrome 4, MAT1A % 96% Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, Methionine adenosyltransferase deficiency, autosomal recessive, MBD % 99% Mental retardation, autosomal dominant 1, MBTPS % 100% IFAP syndrome with or without BRESHECK syndrome, Keratosis follicularis spinulosa decalvans, X-linked, MCCC % 98% 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MCCC % 89% 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MCOLN % 93% Mucolipidosis IV, MCPH % 100% Microcephaly 1, primary, autosomal recessive, MECP % 98% Rett syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome, preserved speech variant, Encephalopathy, neonatal severe, {Autism susceptibility, X-linked 3}, Angelman syndrome,

20 MED % 94% Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, X-linked, MED13L % 98% Transposition of the great arteries, dextro-looped 1, MED % 97% Microcephaly, postnatal progressive, with seizures and brain atrophy, MED % 99% Mental retardation, autosomal recessive 18, MEF2C % 99% Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Chromosome 5q14.3 deletion syndrome, METTL % 100% Mental retardation, autosomal recessive 44, MGAT % 100% Congenital disorder of glycosylation, type IIa, MID % 99% Opitz GBBB syndrome, type I, MID % 98%?Mental retardation,x-linked 101, MKKS % 89% McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, MLYCD 70 89% 84% Malonyl-CoA decarboxylase deficiency, MMAA % 100% Methylmalonic aciduria, vitamin B12-responsive, MMACHC % 100% Methylmalonic aciduria and homocystinuria, cblc type, MMADHC 62 89% 89% Homocystinuria, cbid type, MOCS % 95% Molybdenum cofactor deficiency, type A, MOCS % 99% Molybdenum cofactor deficiency, type B, MOGS % 100% Congenital disorder of gycosylation, type 2b, MPDU % 100% Congenital disorder of glycosylation, type If, MPDZ % 96% Hydrocephalus, nonsyndromic, autosomal recessive 2, MPLKIP % 100% Trichothiodystrophy, nonphotosensitive 1, MRPS % 100% Combined oxidative phosphorylation deficiency 5, MTHFR % 98% Homocystinuria due to MTHFR deficiency, {Neural tube defects, susceptibility to}, {Schizophrenia, susceptibility to}, {Thromboembolism, susceptibility to}, {Vascular disease, susceptibility to} MTOR 0% 0% Smith-Kingsmore syndrome, MTR % 98% Homocystinuria-megaloblastic anemia, cblg complementation type, {Neural tube defects, folate-sensitive, susceptibility to}, MTRR % 98% Homocystinuria-megaloblastic anemia, cbl E type,

21 MUT % 100% Methylmalonic aciduria, mut(0) type, MVK % 99% Mevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, disseminated superficial actinic, MYCN 95 99% 97% Feingold syndrome, MYH % 97% Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome, MYO5A 91 99% 96% Griscelli syndrome, type 1, MYT1L % 98% Mental retardation,autosomal dominant 39, NAA % 97% N-terminal acetyltransferase deficiency, NAGA % 95% Schindler disease, type I, Kanzaki disease, Schindler disease, type III, NAGLU 67 94% 84% Mucopolysaccharidosis type IIIB (Sanfilippo B), NALCN % 95%?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, NBN % 97% Aplastic anemia, Leukemia, acute lymphoblastic, Nijmegen breakage syndrome, NDE % 97% Lissencephaly 4 (with microcephaly), NDP 79 99% 94% Norrie disease, Exudative vitreoretinopathy, X-linked, NDST % 100% Mental retardation, autosomal recessive 46, NDUFA % 100% Mitochondrial complex I deficiency, NDUFA % 80% Mitochondrial complex I deficiency, NDUFA % 99% Leigh syndrome due to mitochondrial complex 1 deficiency, NDUFS % 97% Mitochondrial complex I deficiency, NDUFS % 96% Mitochondrial complex I deficiency, NDUFS % 90% Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency,

22 NDUFS % 100% Leigh syndrome, Mitochondrial complex I deficiency, NDUFS % 99% Leigh syndrome, NDUFS % 95% Leigh syndrome due to mitochondrial complex I deficiency, NDUFV % 91% Mitochondrial complex I deficiency, NEDD4L % 100% 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) NEU % 31% Sialidosis, type I, Sialidosis, type II, NF % 81% Neurofibromatosis, type 1, Leukemia, juvenile myelomonocytic, Melanoma, desmoplastic neurotrophic (2) Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Watson syndrome, NFATC % 99% No OMIM phenotype Tricuspid atresia (Abdul-Sater (2012) PLoS One 7,e49532) Congenital heart disease (Glnessner (2014) Circ Res 115,884) NFIA % 96% 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 % 98% Marshall-Smith syndrome, Sotos syndrome 2, NHS % 92% Nance-Horan syndrome, Cataract 40, X-linked, NIPBL % 98% Cornelia de Lange syndrome 1, NKX % 98% Goiter, familial, due to TTF-1 defect (1) Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, NLGN % 99% {Asperger syndrome susceptibility, X-linked 1}, {Autism susceptibility, X-linked 1},

23 NLGN4X 61 78% 67% Mental retardation, X-linked, {Asperger syndrome susceptibility, X-linked 2}, NLRP % 99% Cold-induced autoinflammatory syndrome, familial, Muckle-Wells syndrome, CINCA syndrome, NPHP % 100% Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, NR2F % 100% Bosch-Boonstra-Schaaf optic atrophy syndrome, NRAS % 100% Autoimmune lymphoproliferative syndrome type IV, Noonan syndrome 6, Epidermal nevus, somatic, Thyroid carcinoma, follicular, somatic, Colorectal cancer, somatic, NRXN % 97% Pitt-Hopkins-like syndrome 2, {Schizophrenia, susceptibility to, 17}, NSD % 99% Sotos syndrome 1, Leukemia, acute myeloid, (1) Beckwith-Wiedemann syndrome, NSDHL % 97% CHILD syndrome, CK syndrome, NSUN % 92% Mental retardation, autosomal recessive 5, NTRK % 90% Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familial, OCLN 91 72% 71% Band-like calcification with simplified gyration and polymicrogyria, OCRL % 97% Lowe syndrome, Dent disease 2, ODC % 97% {Colonic adenoma recurrence,reduced risk of}, OFD % 88% Oral-facial-digital syndrome 1, Simpson-Golabi-Behmel syndrome, type 2, Joubert syndrome 10, OPHN % 98% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, ORC % 97% Meier-Gorlin syndrome 1, OTC % 99% CGD Ornithine transcarbamylase deficiency,

24 PACS % 95% Mental retardation, autosomal dominant 17, PAFAH1B % 77% Lissencephaly, Subcortical laminar heterotopia, PAH 80 96% 92% Phenylketonuria, [Hyperphenylalaninemia, non-pku mild], PAK % 100% Mental retardation, X-linked 30/47, PANK % 93% Neurodegeneration with brain iron accumulation 1, HARP syndrome, PAX % 73%?Orofaciocervical syndrome 2, PAX % 98% Aniridia, Peters anomaly, Cataract with late-onset corneal dystrophy, Keratitis, Foveal hyperplasia, Morning glory disc anomaly, Optic nerve hypoplasia, PAX % 90% Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, PC 93 97% 91% Pyruvate carboxylase deficiency, PCDH % 98% Epileptic encephalopathy, early infantile, 9, PCGF % 89% no OMIM phenotype Developmental disorder (Fitzgerald (2015) Nature 519,223) PCNT 92 97% 90% Microcephalic osteodysplastic primordial dwarfism, type II, PDE4D % 90% Acrocydostosis 2 with or without hormone resistance, {Stroke, susceptibility to, 1}, PDHA % 99% Pyruvate dehydrogenase E1-alpha deficiency, Leigh syndrome, X-linked, PDSS % 87% Coenzyme Q10 deficiency, primary, 2, PDSS % 98% Coenzyme Q10 deficiency, primary, 3, PEPD % 90% Prolidase deficiency, PEX % 100% Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B (NALD/IRD), PEX % 85% Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, PEX11B % 100% Peroxisome biogenesis disorder 14B,

25 PEX % 100% Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3B, PEX % 96% Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B, PEX % 83% Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEX % 100% Peroxisome biogenesis disorder 12A (Zellweger), PEX % 100% Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, PEX % 100% Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX % 100% Peroxisome biogenesis disorder 10A (Zellweger), PEX % 96% Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, PEX % 85% Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, PEX % 81% Rhizomelic chondrodysplasia punctata, type 1, Peroxisome biogenesis disorder 9B, PGAP % 100%?Mental retardation, autosomal recessive 42, PGAP % 99% Hyperphosphatasia with mental retardation syndrome 3, PGAP % 87% Hyperphosphatasia with mental retardation syndrome 4, PGK % 77% Phosphoglycerate kinase 1 deficiency, PHF % 100% Borjeson-Forssman-Lehmann syndrome, PHF % 99% Mental retardation syndrome, X-linked, Siderius type, PHGDH % 99% Phosphoglycerate dehydrogenase deficiency, PHIP % 98% No OMIM phenotype Intellectual disability (de Ligt (2012) N Engl J Med 367,1921) Glaucoma,primary congenital (Lee (2011) Mol Vis 17,3583) PIGL % 99% CHIME syndrome, PIGN % 99% Multiple congenital anomalies-hypotonia-seizures syndrome 1, PIGO % 99% Hyperphosphatasia with mental retardation syndrome 2, PIGT % 100%?Multiple congenital anomalies-hypotonia-seizures syndrome 3, ?Paroxysmal nocturnal hemoglobinuria 2, PIGV % 100% Hyperphosphatasia with mental retardation syndrome 1,

26 PIK3R % 83% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, PLA2G % 92% Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation 2B, Parkinson disease 14, PLCB % 98% Epileptic encephalopathy, early infantile, 12, PLP % 94% Pelizaeus-Merzbacher disease, Spastic paraplegia 2, X-linked, PLXND % 91% 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) PMM % 100% Congenital disorder of glycosylation, type Ia, PNKP 68 99% 95% Epileptic encephalopathy, early infantile, 10, PNP % 100% Immunodeficiency due to purine nucleoside phosphorylase deficiency, POC1A % 94% Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, POGZ % 99% Autism (Neale (2012) Nature 485, 242) Intellectual disability (Gilissen (2014) Nature 511, 344) Schizophrenia (Fromer (2014) Nature 506, 179) POLG 87 99% 91% Mitochondrial DNA depletion syndrome 4A (Alpers type), Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial recessive ataxia syndrome, Progressive external ophthalmoplegia, autosomal dominant, POLR3A 86 99% 95% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, POLR3B % 98% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, POMGNT % 98% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, POMK 0% 0%?Muscular dystrophy-dystroglycanopathy (limb-girdle),type C,12, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),type A,12, POMT % 97% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, POMT % 92% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2,

27 PORCN % 90% Focal dermal hypoplasia, POU1F % 100% Pituitary hormone deficiency, combined, 1, PPOX % 97% Porphyria variegata, PPP2R1A 89 93% 90% Mental retardation, autosomal dominant 36, PPP2R5D % 93% Mental retardation, autosomal dominant 35, PPT % 94% Ceroid lipofuscinosis, neuronal, 1, PQBP % 99% Renpenning syndrome, PRODH 52 78% 63% Hyperprolinemia, type I, {Schizophrenia, susceptibility to, 4}, PRPS % 100% Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease, X-linked recessive, 5, Arts syndrome, Deafness, X-linked 1, PRSS % 95% Mental retardation, autosomal recessive 1, PSAP % 99% Metachromatic leukodystrophy due to SAP-b deficiency, Gaucher disease, atypical, Combined SAP deficiency, Krabbe disease, atypical, PSEN % 96% Acne inversa, familial, 3, Alzheimer disease, type 3, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, PTCH % 95% Basal cell nevus syndrome, Basal cell carcinoma, somatic, Holoprosencephaly-7, PTCHD % 100% {Autism,susceptibility to,x-linked 4}, PTDSS % 100% Lenz-Majewski hyperostotic dwarfism, PTEN % 94% Cowden syndrome 1, Lhermitte-Duclos syndrome, Bannayan-Riley-Ruvalcaba syndrome, {Meningioma}, {Glioma susceptibility 2}, Macrocephaly/autism syndrome,