Le 600 malattie recessive individuate mediante il TCG
Attualmente qualsiasi coppia che desideri evitare la trasmissione di malattie genetiche ai propri figli può farlo mediante un Test di Compatibilità Genetica (TCG), denominato anche Screening Preconcezionale di Malattie Recessive.
Il TCG dell’Instituto Bernabeu, è un tipo di analisi innovativa che utilizza una tecnologia denominata sequenziamento di massa del DNA o di nuova generazione (NGS), mediante la quale studiamo con un semplice campione di sangue 555 mutazioni genetiche causanti oltre 600 malattie autosomiche recessive.
A continuazione tutte le informazioni sul TCG che realizzaimo nell’Instituto Bernabeu:
Le 613 malattie recessive rilevate dal Test di compatibilità genetica (TCG), dal 1 ° luglio 2020
Le 600 malattie recessive individuate mediante il Test di Compatibilità Genetica (TCG)
Índice
13 nuove malattie recessive rilevate dal Test di compatibilità genetica (TCG), dal 1 ° luglio 2020
| GENE | LOCUS | DISEASE | OMIM |
| SERPINA1 | 14q32.13 | Alpha-1-antitrypsin deficiency | 613490 |
| SPG7 | 16q24.3 | Autosomal recessive spastic paraplegia type 7 | 607259 |
| OCA2 | 15q12 | Oculocutaneous albinism type 2 | 203200 |
| SLC26A4 | 7q22.3 | Autosomal recessive non-syndromic sensorineural deafness type DFNB/Pendred syndrome | 274600 |
| CLCN1 | 7q34 | Thomsen and Becker disease | 160800 |
| TYR | 11q14.3 | Oculocutaneous albinism type 1A | 203100 |
| CAPN3 | 15q15.1 | Calpain-3-related limb-girdle muscular dystrophy R1 | 253600 |
| CRB1 | 17p13.1 | Leber congenital amaurosis | 204000 |
| GALNS | 16q24.3 | Mucopolysaccharidosis type 4A | 253000 |
| OTOF | 2p23.3 | Autosomal recessive non-syndromic sensorineural deafness type DFNB | 601071 |
| SAG | 2q37.1 | Retinitis pigmentosa 47 | 613758 |
| TMPRSS3 | 21q22.3 | Deafness, autosomal recessive 8/10 | 601072 |
| TSHR | 14q31.1 | Hyperthyroidism | 603373 |
Le 600 malattie recessive individuate mediante il Test di Compatibilità Genetica (TCG)
COMPATIBILITY GENETIC TEST
| GENE | LOCUS | DISEASE | OMIM |
| AAAS | 12q13.13 | Achalasia-addisonianism-alacrimia syndrome | 231550 |
| ABCA12 | 2q35 | Ichthyosis, autosomal recessive 4B (harlequin) | 242500 |
| ABCA3 | 16p13.3 | Surfactant metabolism dysfunction, pulmonary, 3 | 610921 |
| ABCB11 | 2q31.1 | Cholestasis, benign recurrent intrahepatic, 2 | 605479 |
| Cholestasis, progressive familial intrahepatic 2 | 601847 | ||
| ABCB4 | 7q21.12 | Cholestasis, intrahepatic, of pregnancy, 3 | 614972 |
| Cholestasis, progressive familial intrahepatic 3 | 602347 | ||
| Gallbladder disease 1 | 600803 | ||
| ABCC8 | 11p15.1 | Diabetes mellitus, noninsulin-dependent | 125853 |
| Diabetes mellitus, permanent neonatal | 606176 | ||
| Diabetes mellitus, transient neonatal 2 | 610374 | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | 256450 | ||
| Hypoglycemia of infancy, leucine-sensitive | 240800 | ||
| ABCD1 | Xq28 | Adrenoleukodystrophy | 300100 |
| Adrenomyeloneuropathy, adult | 300100 | ||
| ACAD9 | 3q21.3 | Mitochondrial complex I deficiency due to ACAD9 deficiency | 611126 |
| ACADL | 17p13.1 | VLCAD deficiency | 201475 |
| ACADM | 1p31.1 | Acyl-CoA dehydrogenase, medium chain, deficiency of | 201450 |
| ACADVL | 17p13.1 | VLCAD deficiency | 201475 |
| ACAT1 | 11q22.3 | Alpha-methylacetoacetic aciduria | 203750 |
| ACOX1 | 17q25.1 | Peroxisomal acyl-CoA oxidase deficiency | 264470 |
| ACSL4 | Xq23 | Mental retardation, X-linked 63 | 300387 |
| ADA | 20q13.12 | Severe combined immunodeficiency due to ADA deficiency | 102700 |
| Adenosine deaminase deficiency, partial | 102700 | ||
| ADAMTS13 | 9q34.2 | Thrombotic thrombocytopenic purpura, familial | 274150 |
| ADAMTSL2 | 9q34.2 | Geleophysic dysplasia 1 | 231050 |
| ADCK3 | 1q42.13 | Coenzyme Q10 deficiency, primary, 4 | 612016 |
| AFF2 (FMR2) | Xq28 | Mental retardation, X-linked, FRAXE type | 309548 |
| AGL | 1p21.2 | Glycogen storage disease IIIa | 232400 |
| Glycogen storage disease IIIb | 232400 | ||
| AGPS | 2q31.2 | Rhizomelic chondrodysplasia punctata, type 3 | 600121 |
| AGTR2 | Xq24 | Mental retardation, X-linked 88 | 300852 |
| AHI1 | 6q23.3 | Joubert syndrome-3 | 608629 |
| AIRE | 21q22.3 | Autoimmune polyendocrinopathy syndrome , type I, with or without
reversible metaphyseal dysplasia |
240300 |
| ALDH3A2 | 17p11.2 | Sjogren-Larsson syndrome | 270200 |
| ALDH5A1 | 6p22.3 | Succinic semialdehyde dehydrogenase deficiency | 271980 |
| ALDH7A1 | 5q23.2 | Epilepsy, pyridoxine-dependent | 266100 |
| ALDOB | 9q31.1 | Fructose intolerance | 229600 |
| ALG1 | 16p13.3 | Congenital disorder of glycosylation, type Ik | |
| ALG12 | 22q13.33 | Congenital disorder of glycosylation, type Ig | 607143 |
| ALG2 | 9q22.33 | Congenital disorder of glycosylation, type Ii | 607906 |
| Myasthenic syndrome, congenital, 14, with tubular aggregates | 616228 |
| ALG3 | 3q27.1 | Congenital disorder of glycosylation, type Id | 601110 |
| ALG6 | 1p31.3 | Congenital disorder of glycosylation, type Ic | 603147 |
| ALG8 | 11q14.1 | Congenital disorder of glycosylation, type Ih | 608104 |
| ALG9 | 11q23.1 | Congenital disorder of glycosylation, type Il | 608776 |
| ALMS1 | 2p13.1 | Alstrom syndrome | 203800 |
| ALPL | 1p36.12 | Hypophosphatasia, adult | 146300 |
| Hypophosphatasia, childhood | 241510 | ||
| Hypophosphatasia, infantile | 241500 | ||
| Odontohypophosphatasia | 146300 | ||
| ALS2 | 2q33.1 | Amyotrophic lateral sclerosis 2, juvenile | 205100 |
| Primary lateral sclerosis, juvenile | 606353 | ||
| Spastic paralysis, infantile onset ascending | 607225 | ||
| AMACR | 5p13.2 | Alpha-methylacyl-CoA racemase deficiency | 614307 |
| Bile acid synthesis defect, congenital, 4 | 214950 | ||
| AMT | 3p21.31 | Glycine encephalopathy | 605899 |
| ANTXR2 | 4q21.21 | Hyaline fibromatosis syndrome | 228600 |
| AP1S2 | Xp22.2 | Mental retardation, X-linked syndromic 5 | 304340 |
| AP3B1 | 5q14.1 | Hermansky-Pudlak syndrome 2 | 608233 |
| APTX | 9p21.1 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 208920 |
| AR | Xq12 | Androgen insensitivity | 300068 |
| Androgen insensitivity, partial, with or without breast cancer | 312300 | ||
| Hypospadias 1, X-linked | 300633 | ||
| Spinal and bulbar muscular atrophy of Kennedy | 313200 | ||
| ARHGEF6 | Xq26.3 | Mental retardation, X-linked 46 | 300436 |
| ARHGEF9 | Xq11.1-q11.2 | Epileptic encephalopathy, early infantile, 8 | 300607 |
| ARSA | 22q13.33 | Metachromatic leukodystrophy | 250100 |
| ARSB | 5q14.1 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | 253200 |
| ARSE | Xp22.33 | Chondrodysplasia punctata, X-linked recessive | 302950 |
| ARX | Xp21.3 | Epileptic encephalopathy, early infantile, 1 | 308350 |
| Hydranencephaly with abnormal genitalia | 300215 | ||
| Lissencephaly, X-linked 2 | 300215 | ||
| Mental retardation, X-linked 29 and others | 300419 | ||
| Partington syndrome | 309510 | ||
| Proud syndrome | 300004 | ||
| ASL | 7q11.21 | Argininosuccinic aciduria | 207900 |
| ASPA | 17p13.2 | Canavan disease | 271900 |
| ASS1 | 9q34.11 | Citrullinemia | 215700 |
| ATM | 11q22.3 | Ataxia-telangiectasia | 208900 |
| ATP6V0A2 | 12q24.31 | Cutis laxa, autosomal recessive, type IIA | 219200 |
| Wrinkly skin syndrome | 278250 | ||
| ATP7A | Xq21.1 | Menkes disease | 309400 |
| Occipital horn syndrome | 304150 | ||
| Spinal muscular atrophy, distal, X-linked 3 | 300489 | ||
| ATP7B | 13q14.3 | Wilson disease | 277900 |
| ATP8B1 | 18q21.31 | Cholestasis, benign recurrent intrahepatic | 243300 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 147480 | ||
| Cholestasis, progressive familial intrahepatic 1 | 211600 | ||
| ATR | 3q23 | Cutaneous telangiectasia and cancer syndrome, familial | 614564 |
| Seckel syndrome 1 | 210600 | ||
| ATRX | Xq21.1 | Alpha-thalassemia myelodysplasia syndrome, somatic | 300448 |
| Alpha-thalassemia/mental retardation syndrome | 301040 | ||
| Mental retardation-hypotonic facies syndrome, X-linked | 309580 | ||
| AUH | 9q22.31 | 3-methylglutaconic aciduria, type I | 250950 |
| B4GALT1 | 9p21.1 | Congenital disorder of glycosylation, type IId | 607091 |
| BCKDHA | 19q13.2 | Maple syrup urine disease, type Ia | 248600 |
| BCKDHB | 6q14.1 | Maple syrup urine disease, type Ib | 248600 |
| BCOR | Xp11.4 | Microphthalmia, syndromic 2 | 300166 |
| BCS1L | 2q35 | Bjornstad syndrome | 262000 |
| GRACILE syndrome | 603358 | ||
| Leigh syndrome | 256000 | ||
| Mitochondrial complex III deficiency, nuclear type 1 | 124000 | ||
| BLM | 15q26.1 | Bloom syndrome | 210900 |
| BRWD3 | Xq21.1 | Mental retardation, X-linked 93 | 300659 |
| BTD | 3p25.1 | Biotinidase deficiency | 253260 |
| BTK | Xq22.1 | Agammaglobulinemia and isolated hormone deficiency | 307200 |
| Agammaglobulinemia, X-linked 1 | 300755 | ||
| C10orf2 | 10q24.31 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 |
| Perrault syndrome 5 | |||
| CA2 | 8q21.2 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | 259730 |
| CASK | Xp11.4 | FG syndrome 4 | 300422 |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | ||
| Mental retardation, with or without nystagmus | 300422 | ||
| Non-Hodgkin lymphoma, somatic | 605027 | ||
| CBS | 21q22.3 | Homocystinuria, B6-responsive and nonresponsive types | 236200 |
| Thrombosis, hyperhomocysteinemic | 236200 | ||
| CD19 | 16p11.2 | Immunodeficiency, common variable, 3 | 613493 |
| CD247 | 1q24.2 | Immunodeficiency 25 | 610163 |
| CD3D | 11q23.3 | Immunodeficiency 19 | 615617 |
| CD3E | 11q23.3 | Immunodeficiency 18 | 615615 |
| Immunodeficiency 18, SCID variant | 615615 | ||
| CD3G | 11q23.3 | Immunodeficiency 17, CD3 gamma deficient | 615607 |
| CD40LG | Xq26.3 | Immunodeficiency, X-linked, with hyper-IgM | 308230 |
| CDH23 | 10q22.1 | Deafness, autosomal recessive 12 | 601386 |
| Usher syndrome, type 1D | 601067 | ||
| Usher syndrome, type 1D/F digenic | 601067 | ||
| CDKL5 | Xp22.13 | Angelman syndrome-like | 105830 |
| Epileptic encephalopathy, early infantile, 2 | 300672 | ||
| CEP290 | 12q21.32 | Bardet-Biedl syndrome 14 | 615991 |
| Joubert syndrome 5 | 610188 | ||
| Leber congenital amaurosis 10 | 611755 | ||
| Meckel syndrome 4 | 611134 | ||
| Senior-Loken syndrome 6 | 610189 | ||
| CFP | Xp11.23 | Properdin deficiency, X-linked | 312060 |
| CFTR | 7q31.2 | Cystic fibrosis | 219700 |
| CHRNA1 | 2q31.1 | Multiple pterygium syndrome, lethal type | 253290 |
| Myasthenic syndrome, congenital, 1A, slow-channel | 601462 | ||
| Myasthenic syndrome, congenital, 1B, fast-channel | 608930 | ||
| CHRND | 2q37.1 | Myasthenic syndrome, congenital, 3A, slow-channel | 616321 |
| Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor
deficiency |
616323 | ||
| Multiple pterygium syndrome, lethal type | 253290 | ||
| Myasthenic syndrome, congenital, 3B, fast-channel | |||
| CHRNG | 2q37.1 | Escobar syndrome | 265000 |
| Multiple pterygium syndrome, lethal type | 253290 | ||
| CLCN5 | Xp11.23-p11.22 | Dent disease | 300009 |
| Hypophosphatemic rickets | 300554 | ||
| Nephrolithiasis, type I | 310468 | ||
| Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | 308990 | ||
| CLCN7 | 16p13.3 | Osteopetrosis, autosomal dominant 2 | 166600 |
| Osteopetrosis, autosomal recessive 4 | 611490 | ||
| CLDN1 | 3q28 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | 607626 |
| CLDN19 | 1p34.2 | Hypomagnesemia 5, renal, with ocular involvement | 248190 |
| CLN3 | 16p11.2 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
| CLN5 | 13q22.3 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
| CLN6 | 15q23 | Ceroid lipofuscinosis, neuronal, 6 | 601780 |
| Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | 204300 |
| CLN8 | 8p23.3 | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | 610003 | ||
| CLRN1 | 3q25.1 | Retinitis pigmentosa 61 | 614180 |
| Usher syndrome, type 3A | 276902 | ||
| COG1 | 17q25.1 | Congenital disorder of glycosylation, type IIg | 611209 |
| COG7 | 16p12.2 | Congenital disorder of glycosylation, type IIe | 608779 |
| COG8 | 16q22.1 | Congenital disorder of glycosylation, type IIh | 611182 |
| COL17A1 | 10q24.3-q25.1 | Epidermolysis bullosa, junctional, non-Herlitz type | 226650 |
| COL4A3 | 2q36.3 | Alport syndrome, autosomal dominant | 104200 |
| Alport syndrome, autosomal recessive | 203780 | ||
| Hematuria, benign familial | 141200 | ||
| COL4A | 2q36.3 | Alport syndrome, autosomal recessive | 203780 |
| Hematuria, familial benign | |||
| COL4A5 | Xq22.3 | Alport syndrome | 301050 |
| COL7A1 | 3p21.31 | EBD inversa | 226600 |
| EBD, Bart type | 132000 | ||
| EBD, localisata variant | |||
| Epidermolysis bullosa dystrophica, AD | 131750 | ||
| Epidermolysis bullosa dystrophica, AR | 226600 | ||
| Epidermolysis bullosa pruriginosa | 604129 | ||
| Epidermolysis bullosa, pretibial | 131850 | ||
| Toenail dystrophy, isolated | 607523 | ||
| Transient bullous of the newborn | 131705 | ||
| COQ2 | 4q21.23 | Coenzyme Q10 deficiency, primary, 1 | 607426 |
| COQ9 | 16q21 | Coenzyme Q10 deficiency, primary, 5 | 614654 |
| COX10 | 17p12 | Leigh syndrome due to mitochondrial COX4 deficiency | 256000 |
| Mitochondrial complex IV deficiency | 220110 | ||
| COX15 | 10q24.2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase
deficiency 2 |
615119 |
| Leigh syndrome due to cytochrome c oxidase deficiency | 256000 | ||
| COX6B1 | 19q13.12 | Mitochondrial complex IV deficiency | 220110 |
| CPS1 | 2q34 | Carbamoylphosphate synthetase I deficiency | 237300 |
| CPT1A | 11q13.3 | CPT deficiency, hepatic, type IA | 255120 |
| CPT2 | 1p32.3 | CPT deficiency, hepatic, type II | 600649 |
| CPT II deficiency, lethal neonatal | 608836 | ||
| Myopathy due to CPT II deficiency | 255110 | ||
| CRLF1 | 19p13.11 | Cold-induced sweating syndrome 1 | 272430 |
| CRTAP | 3p22.3 | Osteogenesis imperfecta, type VII | 610682 |
| CSTB | 21q22.3 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | 254800 |
| CTNS | 17p13.2 | Cystinosis, atypical nephropathic | 219800 |
| Cystinosis, late-onset juvenile or adolescent nephropathic | 219900 | ||
| Cystinosis, nephropathic | 219800 | ||
| Cystinosis, ocular nonnephropathic | 219750 | ||
| CTSD | 11p15.5 | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
| CTSK | 1q21.3 | Pycnodysostosis | 265800 |
| CUL4B | Xq24 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | 300354 |
| CYP11A1 | 15q24.1 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | 613743 |
| CYP11B1 | 8q24.3 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | 202010 |
| Aldosteronism, glucocorticoid-remediable | 103900 | ||
| CYP17A1 | 10q24.32 | 17,20-lyase deficiency, isolated | 202110 |
| 17-alpha-hydroxylase/17,20-lyase deficiency | 202110 | ||
| CYP21A2 | 6p21.33 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | 201910 |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | 201910 | ||
| CYP27A1 | 2q35 | Cerebrotendinous xanthomatosis | 213700 |
| CYP27B1 | 12q14.1 | Vitamin D-dependent rickets, type I | 264700 |
| DBT | 1p21.2 | Maple syrup urine disease, type II | 248600 |
| DCLRE1C | 10p13 | Omenn syndrome | 603554 |
| Severe combined immunodeficiency, Athabascan type | 602450 |
| DCX | Xq23 | Lissencephaly, X-linked | 300067 |
| Subcortical laminal heteropia, X-linked | 300067 | ||
| DDB2 | 11p11.2 | Xeroderma pigmentosum, group E, DDB-negative subtype | 278740 |
| DDC | 7p12.1 | Aromatic L-amino acid decarboxylase deficiency | 608643 |
| DGUOK | 2p13.1 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 251880 |
| DHCR24 | 1p32.3 | Desmosterolosis | 602398 |
| DHCR7 | 11q13.4 | Smith-Lemli-Opitz syndrome | 270400 |
| DKC1 | Xq28 | Dyskeratosis congenita, X-linked | 305000 |
| DLD | 31.1 | Dihydrolipoamide dehydrogenase deficiency | 246900 |
| DLG3 | Xq13.1 | Mental retardation, X-linked 90 | 300850 |
| DLL3 | 19q13.2 | Spondylocostal dysostosis 1, autosomal recessive | 277300 |
| DMD | Xp21.2-p21.1 | Becker muscular dystrophy | 300376 |
| Cardiomyopathy, dilated, 3B | 302045 | ||
| Duchenne muscular dystrophy | 310200 | ||
| DMP1 | 4q22.1 | Hypophosphatemic rickets, AR | 241520 |
| DNAJC19 | 3q26.33 | 3-methylglutaconic aciduria, type V | 610198 |
| DNMT3B | 20q11.21 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 |
| DOCK8 | 9p24.3 | Hyper-IgE recurrent infection syndrome, autosomal recessive | 243700 |
| Mental retardation, autosomal dominant 2 | 614113 | ||
| DOLK | 9q34.11 | Congenital disorder of glycosylation, type Im | 610768 |
| DPAGT1 | 11q23.3 | Congenital disorder of glycosylation, type Ij | 608093 |
| Myasthenic syndrome, congenital, 13, with tubular aggregates | 614750 | ||
| DPM1 | 20q13.13 | Congenital disorder of glycosylation, type Ie | 608799 |
| DPYD | 1p21.3 | Dihydropyrimidine dehydrogenase deficiency | 274270 |
| DSP | 6p24.3 | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
| Cardiomyopathy, dilated, with woolly hair and keratoderma | 605676 | ||
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | 615821 | ||
| Epidermolysis bullosa, lethal acantholytic | 609638 | ||
| Keratosis palmoplantaris striata II | 612908 | ||
| Skin fragility-woolly hair syndrome | 607655 | ||
| DYNC2H1 | 11q22.3 | Short-rib thoracic dysplasia 3 with or without polydactyly | 613091 |
| EDA | Xq13.1 | Ectodermal dysplasia 1, hypohidrotic, X-linked | 305100 |
| Tooth agenesis, selective, X-linked 1 | 313500 | ||
| EDN3 | 20q13.32 | Central hypoventilation syndrome, congenital | 209880 |
| Waardenburg syndrome, type 4B | 613265 | ||
| EDNRB | 13q22.3 | ABCD syndrome | 600501 |
| Waardenburg syndrome, type 4A | 277580 | ||
| EFEMP2 | 11q13.1 | Cutis laxa, autosomal recessive, type IB | 614437 |
| EFNB1 | Xq13.1 | Craniofrontonasal dysplasia | 304110 |
| EGR2 | 10q21.3 | Charcot-Marie-Tooth disease, type 1D | 607678 |
| Dejerine-Sottas disease | 145900 | ||
| Neuropathy, congenital hypomyelinating, 1 | 605253 | ||
| EIF2AK3 | 2p11.2 | Wolcott-Rallison syndrome | 226980 |
| ENPP1 | 6q23.2 | Arterial calcification, generalized, of infancy, 1 | 208000 |
| Cole disease | 615522 | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | 613312 | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | 125853 | ||
| Obesity, susceptibility to | 601665 | ||
| EPM2A | 6q24.3 | Epilepsy, progressive myoclonic 2A (Lafora) | 254780 |
| ERBB3 | 12q13.2 | Lethal congenital contractural syndrome 2 | 607598 |
| ERCC2 | 19q13.32 | Cerebrooculofacioskeletal syndrome 2 | 610756 |
| Trichothiodystrophy 1, photosensitive | 601675 | ||
| Xeroderma pigmentosum, group D | 278730 | ||
| ERCC3 | 2q14.3 | Trichothiodystrophy 2, photosensitive | 616390 |
| Xeroderma pigmentosum, group B | 610651 | ||
| ERCC4 | 16p13.12 | Fanconi anemia, complementation group Q | 610965 |
| Xeroderma pigmentosum, group F | 278760 | ||
| Xeroderma pigmentosum, type F/Cockayne syndrome | 278760 | ||
| XFE progeroid syndrome | 610965 |
| ERCC5 | 3q33.1 | Xeroderma pigmentosum, group G | 278780 |
| Xeroderma pigmentosum, group G/Cockayne syndrome | 278780 | ||
| ERCC6 | 10q11.23 | Cerebrooculofacioskeletal syndrome 1 | 214150 |
| Cockayne syndrome, type B | 133540 | ||
| De Sanctis-Cacchione syndrome | 278800 | ||
| UV-sensitive syndrome 1 | 600630 | ||
| Macular degeneration, age-related, susceptibility to 5 | 613761 | ||
| ERCC8 | 5q12.1 | Cockayne syndrome, type A | 216400 |
| UV-sensitive syndrome 2 | 614621 | ||
| ESCO2 | 8p21.1 | Roberts syndrome | 268300 |
| SC phocomelia syndrome | 269000 | ||
| ETFA | 15q24.2-q24.3 | Glutaric acidemia IIA | 231680 |
| ETFB | 19q13.41 | Glutaric acidemia IIB | 231680 |
| ETFDH | 4q32.1 | Glutaric acidemia IIC | 231680 |
| ETHE1 | 19q13.31 | Ethylmalonic encephalopathy | 602473 |
| EVC | 4p16.2 | Ellis-van Creveld syndrome | 225500 |
| Weyers acrodental dysostosis | 193530 | ||
| EVC2 | 4p16.2 | Ellis-van Creveld syndrome | 225500 |
| Weyers acrofacial dysostosis | 193530 | ||
| F8 | Xq28 | Hemophilia A | 306700 |
| F9 | Xq27.1 | Hemophilia B | 306900 |
| Thrombophilia, X-linked, due to factor IX defect | 300807 | ||
| Deep venous thrombosis, protection against | 300807 | ||
| Warfarin sensitivity | 122700 | ||
| FAH | 15q25.1 | Tyrosinemia, type I | 276700 |
| FAM126A | 7p15.3 | Leukodystrophy, hypomyelinating, 5 | 610532 |
| FAM20C | 7p22.3 | Raine syndrome | 259775 |
| FANCC | 9q22.32 | Fanconi anemia, complementation group C | 227645 |
| FAS | 10q23.31 | Autoimmune lymphoproliferative syndrome, type IA | 601859 |
| Squamous cell carcinoma, burn scar-related, somatic | |||
| Autoimmune lymphoproliferative syndrome | 601859 | ||
| FASLG | 1q24.3 | Autoimmune lymphoproliferative syndrome, type IB | 601859 |
| FASTKD2 | 2q33.3 | Mitochondrial complex IV deficiency | 220110 |
| FBLN5 | 14q32.12 | Cutis laxa, autosomal recessive, type IA | 219100 |
| FERMT3 | 11q13.1 | Leukocyte adhesion deficiency, type III | 612840 |
| FGA | 4q31.3 | Afibrinogenemia, congenital | 202400 |
| Amyloidosis, familial visceral | 105200 | ||
| Dysfibrinogenemia, congenital | 616004 | ||
| Hypodysfibrinogenemia, congenital | 616004 | ||
| FGD1 | Xp11.22 | Aarskog-Scott syndrome | 305400 |
| Mental retardation, X-linked syndromic 16 | 305400 | ||
| FGD4 | 12p11.21 | Charcot-Marie-Tooth disease, type 4H | 609311 |
| FH | 19p13.2 | Hypercholesterolemia, familial | 143890 |
| LDL cholesterol level QTL2 | 143890 | ||
| FKRP | 19q13.32 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
anomalies), type A, 5 |
613153 |
| Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 606612 | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 | ||
| FKTN | 9q31.2 | Cardiomyopathy, dilated, 1X | 611615 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
anomalies), type A, 4 |
253800 | ||
| Muscular dystrophy-dystroglycanopathy (congenital without mental
retardation), type B, 4 |
613152 | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 | ||
| FOLR1 | 11q13.4 | Neurodegeneration due to cerebral folate transport deficiency | 613068 |
| FOXG1 | 14q12 | Rett syndrome, congenital variant | 613454 |
| FOXN1 | 17q11.2 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 601705 |
| FOXP3 | Xp11.23 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | 304790 |
| Diabetes mellitus, type I, susceptibility to | 222100 | ||
| FRAS1 | 4q21.21 | Fraser syndrome | 219000 |
| FREM2 | 13q13.3 | Fraser syndrome | 219000 |
| FTSJ1 | Xp11.23 | Mental retardation, X-linked 9 | 309549 |
| FUCA1 | 1p36.11 | Fucosidosis | 230000 |
| G6PC3 | 17q21.31 | Dursun syndrome | 612541 |
| Neutropenia, severe congenital 4, autosomal recessive | 612541 | ||
| G6PD | Xq28 | Favism | 134700 |
| Hemolytic anemia due to G6PD deficiency | 300908 | ||
| Resistance to malaria due to G6PD deficiency | 611162 | ||
| GAA | 17q25.3 | Glycogen storage disease II | 232300 |
| GALC | 14q31.3 | Krabbe disease | 245200 |
| GALK1 | 17q25.1 | Galactokinase deficiency with cataracts | 230200 |
| GALT | 9p13.3 | Galactosemia | 230400 |
| GAMT | 19p13.3 | Cerebral creatine deficiency syndrome 2 | 612736 |
| GBA | 1q22 | Gaucher disease, perinatal lethal | 608013 |
| Gaucher disease, type I | 230800 | ||
| Gaucher disease, type II | 230900 | ||
| Gaucher disease, type III | 231000 | ||
| Gaucher disease, type IIIC | 231005 | ||
| Lewy body dementia, susceptibility to | 127750 | ||
| Parkinson disease, late-onset, susceptibility to | 168600 | ||
| GBE1 | 3p12.2 | Glycogen storage disease IV | 232500 |
| Polyglucosan body disease, adult form | 263570 | ||
| GCDH | 19p13.2 | Glutaricaciduria, type I | 231670 |
| GCSH | 16q23.2 | Glycine encephalopathy | 605899 |
| GDAP1 | 8q21.11 | Charcot-Marie-Tooth disease, axonal, type 2K | 607831 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | 607706 | ||
| Charcot-Marie-Tooth disease, recessive intermediate, A | 608340 | ||
| Charcot-Marie-Tooth disease, type 4A | 214400 | ||
| GDI1 | Xq28 | Mental retardation, X-linked 41 | 300849 |
| GFM1 | 3q25.32 | Combined oxidative phosphorylation deficiency 1 | 609060 |
| GJB2 | 13q12.11 | Bart-Pumphrey syndrome | 149200 |
| Deafness, autosomal dominant 3A | 601544 | ||
| Deafness, autosomal recessive 1A | 220290 | ||
| Hystrix-like ichthyosis with deafness | 602540 | ||
| Keratitis-ichthyosis-deafness syndrome | 148210 | ||
| Keratoderma, palmoplantar, with deafness | 148350 | ||
| Vohwinkel syndrome | 124500 | ||
| GJC2 | 1q42.13 | Leukodystrophy, hypomyelinating, 2 | 608804 |
| Lymphedema, hereditary, IC | 613480 | ||
| Spastic paraplegia 44, autosomal recessive | 613206 | ||
| GLA | Xq22.1 | Fabry disease | 301500 |
| Fabry disease, cardiac variant | 301500 | ||
| GLB1 | 3p22.3 | GM1-gangliosidosis, type I | 230500 |
| GM1-gangliosidosis, type II | 230600 | ||
| GM1-gangliosidosis, type III | 230650 | ||
| Mucopolysaccharidosis type IVB (Morquio) | 253010 | ||
| GLDC | 9p24.1 | Glycine encephalopathy | 605899 |
| GLE1 | 9q34.11 | Arthrogryposis, lethal, with anterior horn cell disease | 611890 |
| Lethal congenital contracture syndrome 1 | 253310 | ||
| GNPTAB | 12q23.2 | Mucolipidosis II alpha/beta | 252500 |
| Mucolipidosis III alpha/beta | 252600 | ||
| GNRHR | 4q13.2 | Hypogonadotropic hypogonadism 7 without anosmia | 146110 |
| GPC3 | Xq26.2 | Simpson-Golabi-Behmel syndrome, type 1 | 312870 |
| Wilms tumor, somatic | 194070 | ||
| GPR98 | 5q14.3 | Febrile seizures, familial, 4 | 604352 |
| Usher syndrome, type 2C | 605472 | ||
| Usher syndrome, type 2C, GPR98/PDZD7 digenic | 605472 | ||
| GRIK2 | 6q16.3 | Mental retardation, autosomal recessive, 6 | 611092 |
| GSS | 20q11.22 | Glutathione synthetase deficiency | 266130 |
| Hemolytic anemia due to glutathione synthetase deficiency | 231900 | ||
| GTF2H5 | 6q25.3 | Trichothiodystrophy 3, photosensitive | 616395 |
| GUSB | 7q11.21 | Mucopolysaccharidosis VII | 253220 |
| HADH | 4q25 | 3-hydroxyacyl-CoA dehydrogenase deficiency | 231530 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 609975 | ||
| HADHA | 2p23.3 | Fatty liver, acute, of pregnancy | 609016 |
| HELLP syndrome, maternal, of pregnancy | 609016 | ||
| LCHAD deficiency | 609016 | ||
| Trifunctional protein deficiency | 609015 | ||
| HADHB | 2p23.3 | Trifunctional protein deficiency | 609015 |
| HAMP | 19q13.12 | Hemochromatosis, type 2B | 613313 |
| HAX1 | 1q21.3 | Neutropenia, severe congenital 3, autosomal recessive | 610738 |
| HBA1 | 16p13.3 | Erythremias, alpha- | 141800 |
| Heinz body anemias, alpha- | 140700 | ||
| Hemoglobin H disease, nondeletional | 613978 | ||
| Methemoglobinemias, alpha- | 141800 | ||
| Thalassemias, alpha- | 604131 | ||
| HBB | 11p15.4 | Delta-beta thalassemia | 141749 |
| Erythremias, beta- | 141800 | ||
| Heinz body anemias, beta- | 140700 | ||
| Hereditary persistence of fetal hemoglobin | 141749 | ||
| Methemoglobinemias, beta- | 141900 | ||
| Sickle cell anemia | 603903 | ||
| Thalassemias, beta- | 613985 | ||
| HESX1 | 3p14.3 | Growth hormone deficiency with pituitary anomalies | 182230 |
| Pituitary hormone deficiency, combined, 5 | 182230 | ||
| Septooptic dysplasia | 182230 | ||
| HEXA | 15q23 | GM2-gangliosidosis, several forms | 272800 |
| Tay-Sachs disease | 272800 | ||
| Hex A pseudodeficiency | 272800 | ||
| HEXB | 5q13.3 | Sandhoff disease, infantile, juvenile, and adult forms | 268800 |
| HFE2 | 1q21.1 | Hemochromatosis, type 2A | 602390 |
| HGSNAT | 8p11.21 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | 252930 |
| HIBCH | 2q32.2 | 3-hydroxyisobutryl-CoA hydrolase deficiency | 250620 |
| HLCS | 21q22.13 | Holocarboxylase synthetase deficiency | 253270 |
| HMGCL | 1p36.11 | HMG-CoA lyase deficiency | 246450 |
| HP | 12q24.31 | Hawkinsinuria | 140350 |
| Tyrosinemia, type III | 276710 | ||
| HPRT | Xq26.2-q26.3 | KELLEY-SEEGMILLER SYNDROME | 300323 |
| Lesch-Nyhan syndrome | 300322 | ||
| HSD11B2 | 16q22.1 | Apparent mineralocorticoid excess | 218030 |
| HSD17B10 | Xp11.22 | 17-beta-hydroxysteroid dehydrogenase X deficiency | 300438 |
| Mental retardation, X-linked syndromic 10 | 300220 | ||
| HSD17B3 | 9q22.32 | Pseudohermaphroditism, male, with gynecomastia | 264300 |
| HSD17B4 | 5q23.1 | D-bifunctional protein deficiency | 261515 |
| Perrault syndrome 1 | 233400 | ||
| HSD3B2 | 1p12 | 3-beta-hydroxysteroid dehydrogenase, type II, deficiency | 201810 |
| HSPG2 | 1p36.12 | Dyssegmental dysplasia, Silverman-Handmaker type | 224410 |
| Schwartz-Jampel syndrome, type 1 | 255800 | ||
| HUWE1 | Xp11.22 | Mental retardation, X-linked syndromic, Turner type | 300706 |
| ICOS | 2q33.2 | Immunodeficiency, common variable, 1 | 607594 |
| IDS | Xq28 | Mucopolysaccharidosis II | 309900 |
| IDUA | 4p16.3 | Mucopolysaccharidosis Ih ( Hurler Syndrome) | 607014 |
| Mucopolysaccharidosis Ih/s ( HURLER-SCHEIE SYNDROME) | 607015 | ||
| Mucopolysaccharidosis Is (SCHEIE SYNDROME) | 607016 | ||
| IFNGR1 | 6q23.3 | Immunodeficiency 27A, mycobacteriosis, AR | 209950 |
| Immunodeficiency 27B, mycobacteriosis, AD | 615978 | ||
| IFNGR2 | 21q22.11 | Immunodeficiency 28, mycobacteriosis | 614889 |
| IFT80 | 3q25.33 | Short-rib thoracic dysplasia 2 with or without polydactyly | 611263 |
| IGHMBP2 | 11q13.3 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 |
| Neuronopathy, distal hereditary motor, type VI | 604320 | ||
| IKBKAP | 9q31.3 | Dysautonomia, familial | 223900 |
| IKBKG | Xq28 | Ectodermal dysplasia, hypohidrotic, with immune deficiency | 300291 |
| Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | 300301 | ||
| Immunodeficiency 33 | 300636 | ||
| Immunodeficiency, isolated | 300584 | ||
| Incontinentia pigmenti | 308300 | ||
| IL12B | 5q33.3 | Immunodeficiency 29, mycobacteriosis | 614890 |
| IL12RB1 | 19p13.11 | Immunodeficiency 30 | 614891 |
| IL1RAPL1 | Xp21.3-p21.2 | Mental retardation, X-linked 21/34 | 300143 |
| IL1RN | 2q13 | Interleukin 1 receptor antagonist deficiency | 612852 |
| Microvascular complications of diabetes 4 | 612628 | ||
| IL2R | Xq13.1 | Combined immunodeficiency, X-linked, moderate | 312863 |
| Severe combined immunodeficiency, X-linked | 300400 | ||
| INSR | 19p13.2 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | 610549 |
| Hyperinsulinemic hypoglycemia, familial, 5 | 609968 | ||
| Leprechaunism | 246200 | ||
| Rabson-Mendenhall syndrome | 262190 | ||
| INVS | 9q31.1 | Nephronophthisis 2, infantile | 602088 |
| IQCB1 | 3q13.33 | Senior-Loken syndrome 5 | 609254 |
| ITGA6 | 2q31.1 | Epidermolysis bullosa, junctional, with pyloric stenosis | 226730 |
| ITGB4 | 17q25.1 | Epidermolysis bullosa of hands and feet | 131800 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 226650 | ||
| Epidermolysis bullosa, junctional, with pyloric atresia | 226730 | ||
| IVD | 15q15.1 | Isovaleric acidemia | 243500 |
| JAK3 | 19p13.11 | SCID, autosomal recessive, T-negative/B-positive type | 600802 |
| KCNJ1 | 11q24.3 | Bartter syndrome, type 2 | 241200 |
| KDM5C | Xp11.22 | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 |
| L1CAM | Xq28 | Corpus callosum, partial agenesis of | 304100 |
| CRASH syndrome | 303350 | ||
| Hydrocephalus due to aqueductal stenosis | 307000 | ||
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | 307000 | ||
| Hydrocephalus with Hirschsprung disease | 307000 | ||
| MASA syndrome | 303350 | ||
| LAMA2 | 6q22.33 | Muscular dystrophy, congenital merosin-deficient | 607855 |
| Muscular dystrophy, congenital, due to partial LAMA2 deficiency | 607855 | ||
| LAMA3 | 18q11.2 | Epidermolysis bullosa, generalized atrophic benign | 226650 |
| Epidermolysis bullosa, junctional, Herlitz type | 226700 | ||
| Laryngoonychocutaneous syndrome | 245660 | ||
| LAMB2 | 3p21.31 | Nephrotic syndrome, type 5, with or without ocular abnormalities | 614199 |
| Pierson syndrome | 609049 | ||
| LAMB3 | 1q32.2 | Amelogenesis imperfecta, type IA | 104530 |
| Epidermolysis bullosa, junctional, Herlitz type | 226700 | ||
| Epidermolysis bullosa, junctional, non-Herlitz type | 226650 | ||
| LAMC2 | 1q25.3 | Epidermolysis bullosa, junctional, Herlitz type | 226700 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 226650 | ||
| LARGE | 22q12.3 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
anomalies), type A, 6 |
613154 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental
retardation), type B, 6 |
608840 | ||
| LBR | 1q42.12 | Reynolds syndrome | 613471 |
| Greenberg skeletal dysplasia | 215140 | ||
| Pelger-Huet anomaly | 169400 | ||
| LEPRE1 | 1p34.2 | Osteogenesis imperfecta, type VIII | 610915 |
| LHCGR | 2p16.3 | Leydig cell adenoma, somatic, with precocious puberty | 176410 |
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | 238320 | ||
| Leydig cell hypoplasia with pseudohermaphroditism | 238320 | ||
| Luteinizing hormone resistance, female | 238320 | ||
| Precocious puberty, male | 176410 | ||
| LHX3 | 9q34.3 | Pituitary hormone deficiency, combined, 3 | 221750 |
| LIFR | 5p13.1 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | 601559 |
| LIG4 | 13q33.3 | LIG4 syndrome | 606593 |
| LRP2 | 2q31.1 | Donnai-Barrow syndrome | 222448 |
| LRPPRC | 2p21 | Leigh syndrome, French-Canadian type | 220111 |
| LYST | 1q42.3 | Chediak-Higashi syndrome | 214500 |
| MAN2B1 | 19p13.2 | Mannosidosis, alpha-, types I and II | 248500 |
| MBTPS2 | Xp22.12-p22.11 | Olmsted syndrome, X-linked | 300918 |
| IFAP syndrome with or without BRESHECK syndrome | 308205 | ||
| Keratosis follicularis spinulosa decalvans, X-linked | 308800 | ||
| MCOLN1 | 19p13.2 | Mucolipidosis IV | 252650 |
| MECP2 | Xq28 | Angelman syndrome | 105830 |
| Encephalopathy, neonatal severe | 300673 | ||
| Mental retardation, X-linked syndromic, Lubs type | 300260 | ||
| Mental retardation, X-linked, syndromic 13 | 300055 | ||
| Rett syndrome | 312750 | ||
| Rett syndrome, preserved speech variant | 312750 | ||
| Autism susceptibility, X-linked 3 | 300496 | ||
| MED12 | Xq13.1 | Lujan-Fryns syndrome | 309520 |
| Ohdo syndrome, X-linked | 300895 | ||
| Opitz-Kaveggia syndrome | 305450 | ||
| MEFV | 16p13.3 | Familial Mediterranean fever, AD | 134610 |
| Familial Mediterranean fever, AR | 249100 | ||
| MFSD8 | 4q28.2 | Ceroid lipofuscinosis, neuronal, 7 | 610951 |
| Macular dystrophy with central cone involvement | 616170 | ||
| MGAT2 | 14q21.3 | Congenital disorder of glycosylation, type IIa | 212066 |
| MID1 | Xp22.2 | Opitz GBBB syndrome, type I | 300000 |
| MKS1 | 17q22 | Bardet-Biedl syndrome 13 | 615990 |
| Meckel syndrome 1 | 249000 | ||
| MLC1 | 22q13.33 | Megalencephalic leukoencephalopathy with subcortical cysts | 604004 |
| MMAA | 4q31.21 | Methylmalonic aciduria, vitamin B12-responsive | 251100 |
| MMAB | 12q24.11 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis
of adenosylcobalamin, cblB complementation type |
251110 |
| MMACHC | 1p34.1 | Methylmalonic aciduria and homocystinuria, cblC type | 277400 |
| MOCS1 | 6p21.2 | Molybdenum cofactor deficiency A | 252150 |
| MOCS2 | 5q11.2 | Molybdenum cofactor deficiency B | 252160 |
| MOGS | 2p13.1 | Congenital disorder of glycosylation, type IIb | 606056 |
| MPDU1 | 17p13.1 | Congenital disorder of glycosylation, type If | 609180 |
| MPI | 15q24.1 | Congenital disorder of glycosylation, type Ib | 602579 |
| MPL | 1p34.2 | Myelofibrosis with myeloid metaplasia, somatic | 254450 |
| Thrombocythemia 2 | 601977 | ||
| Thrombocytopenia, congenital amegakaryocytic | 604498 | ||
| MPV17 | 2p23.3 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 256810 |
| MPZ | 1q23.3 | Charcot-Marie-Tooth disease, dominant intermediate D | 607791 |
| Charcot-Marie-Tooth disease, type 1B | 118200 | ||
| Charcot-Marie-Tooth disease, type 2I | 607677 | ||
| Charcot-Marie-Tooth disease, type 2J | 607736 | ||
| Dejerine-Sottas disease | 145900 | ||
| Neuropathy, congenital hypomyelinating | 605253 | ||
| Roussy-Levy syndrome | 180800 | ||
| MRPS16 | 10q22.2 | Combined oxidative phosphorylation deficiency 2 | 610498 |
| MRPS22 | 3q23 | Combined oxidative phosphorylation deficiency 5 | 611719 |
| MTM1 | Xq28 | Myotubular myopathy, X-linked | 310400 |
| MUT | 6p12.3 | Methylmalonic aciduria, mut(0) type | 251000 |
| MVK | 12q24.11 | Hyper-IgD syndrome | 260920 |
| Mevalonic aciduria | 610377 | ||
| Porokeratosis 3, disseminated superficial actinic | 175900 | ||
| MYD88 | 3p22.2 | Macroglobulinemia, Waldenstrom, somatic | 153600 |
| Pyogenic bacterial infections, recurrent, due to MYD88 deficiency | 612260 | ||
| MYO5A | 15q21.2 | Griscelli syndrome, type 1 | 214450 |
| MYO7A | 11q13.5 | Deafness, autosomal dominant 11 | 601317 |
| Deafness, autosomal recessive 2 | 600060 | ||
| Usher syndrome, type 1B | 276900 | ||
| NAGLU | 17q21.2 | Mucopolysaccharidosis type IIIB (Sanfilippo B) | 252920 |
| NAGS | 17q21.31 | N-acetylglutamate synthase deficiency | 237310 |
| NBN | 8q21.3 | Aplastic anemia | 609135 |
| Leukemia, acute lymphoblastic | 613065 | ||
| Nijmegen breakage syndrome | 251260 | ||
| NDP | Xp11.3 | Exudative vitreoretinopathy 2, X-linked | 305390 |
| Norrie disease | 310600 | ||
| NDUFA1 | Xq24 | Mitochondrial complex I deficiency | 252010 |
| NDUFA7 | 19p13.3 | Mitochondrial Complex 1 Deficiency (MT-C1D) | 252010 |
| NDUFAF | 5q12.1 | Leigh syndrome | 256000 |
| NDUFAF4 | 6q16.1 | Mitochondrial complex I deficiency | 252010 |
| NDUFS3 | 11p11.2 | Leigh syndrome due to mitochondrial complex I deficiency | 256000 |
| Mitochondrial complex I deficiency | 252010 | ||
| NDUFS4 | 5q11.2 | Leigh syndrome | 256000 |
| Mitochondrial complex I deficiency | 252010 | ||
| NDUFS5 | 1p34.3 | Mitochondrial complex I deficiency | 252010 |
| NDUFS6 | 5p15.33 | Complex I, mitochondrial respiratory chain, deficiency of | 252010 |
| NDUFS7 | 19p13.3 | Leigh syndrome | 256000 |
| NDUFS8 | 11q13.2 | Leigh syndrome due to mitochondrial complex I deficiency | 256000 |
| NDUFV1 | 11q13.2 | Mitochondrial complex I deficiency | 252010 |
| NEB | 2q23.3 | Nemaline myopathy 2, autosomal recessive | 256030 |
| NEU1 | 6p21.33 | Sialidosis, type I | 256550 |
| Sialidosis, type II | 256550 | ||
| NEUROG3 | 10q22.1 | Diarrhea 4, malabsorptive, congenital | 610370 |
| NHEJ1 | 2q35 | Severe combined immunodeficiency with microcephaly, growth retardation,
and sensitivity to ionizing radiation |
611291 |
| NHLRC1 | 6p22.3 | Epilepsy, progressive myoclonic 2B (Lafora) | 254780 |
| NHS | Xp22.13 | Cataract 40, X-linked | 302200 |
| Nance-Horan syndrome | 302350 | ||
| NLGN4X | Xp22.32-p22.31 | Mental retardation, X-linked | 300495 |
| Asperger syndrome susceptibility, X-linked 2 | 300497 | ||
| Autism susceptibility, X-linked 2 | 300495 | ||
| NPC1 | 18q11.2 | Niemann-Pick disease, type C1 | 257220 |
| Niemann-Pick disease, type D | 257220 | ||
| NPC2 | 14q24.3 | Niemann-pick disease, type C2 | 607625 |
| NPHP1 | 2q13 | Joubert syndrome 4 | 609583 |
| Nephronophthisis 1, juvenile | 256100 | ||
| Senior-Loken syndrome-1 | 266900 | ||
| NPHP3 | 3q22.1 | Meckel syndrome 7 | 267010 |
| Nephronophthisis 3 | 604387 | ||
| Renal-hepatic-pancreatic dysplasia 1 | 208540 | ||
| NPHP4 | 1p36.31 | Nephronophthisis 4 | 606966 |
| Senior-Loken syndrome 4 | 606996 | ||
| NPHS1 | 19q13.12 | Nephrotic syndrome, type 1 | 256300 |
| NPHS2 | 1q25.2 | Nephrotic syndrome, type 2 | 600995 |
| NR5A1 | 9q33.3 | 46XY sex reversal 3 | 612965 |
| Adrenocortical insufficiency | |||
| Premature ovarian failure 7 | 612964 | ||
| Spermatogenic failure 8 | 613957 | ||
| NSD1 | 5q35.2-q35.3 | Beckwith-Wiedemann syndrome | 130650 |
| Leukemia, acute myeloid | 601626 | ||
| Sotos syndrome 1 | 117550 | ||
| NSUN2 | 5p15.31 | Mental retardation, autosomal recessive 5 | 611091 |
| NTRK1 | 1q23.1 | Insensitivity to pain, congenital, with anhidrosis | 256800 |
| NUP62 | 19q13.33 | Striatonigral degeneration, infantile | 271930 |
| NXF5 | Xq22.1 | Nuclear RNA export factor 5 | 300319 |
| OCRL | Xq25-q26 | Dent disease 2 | 300555 |
| Lowe syndrome | 309000 | ||
| OFD1 | Xp22.2 | Retinitis pigmentosa 23 | 300424 |
| Joubert syndrome 10 | 300804 | ||
| Orofaciodigital syndrome I | 311200 |
| Simpson-Golabi-Behmel syndrome, type 2 | 300209 | ||
| OPA3 | 19q13.32 | Optic atrophy 3 with cataract | 165300 |
| OPHN1 | Xq12 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial
appearance |
300486 |
| ORAI1 | 12q24.31 | Immunodeficiency 9 | 612782 |
| Myopathy, tubular aggregate, 2 | 615883 | ||
| OSTM1 | 6q21 | Osteopetrosis, autosomal recessive 5 | 259720 |
| OTC | Xp11.4 | Ornithine transcarbamylase deficiency | 311250 |
| PAH | 12q23.2 | Phenylketonuria | 261600 |
| PAK3 | Xq23 | Mental retardation, X-linked 30/47 | 300558 |
| PANK2 | 20p13 | HARP syndrome | 607236 |
| PC | 11q13.2 | Pyruvate carboxylase deficiency | 266150 |
| PCCA | 13q32.3 | Propionicacidemia | 606054 |
| PCCB | 3q22.3 | Propionicacidemia | 606054 |
| PCDH19 | Xq22.1 | Epileptic encephalopathy, early infantile, 9 | 300088 |
| PDHA1 | Xp22.12 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 |
| PDHX | 11p13 | Lacticacidemia due to PDX1 deficiency | 245349 |
| PDP1 | 8q22.1 | Pyruvate dehydrogenase phosphatase deficiency | 608782 |
| PDSS1 | 10p12.1 | Coenzyme Q10 deficiency, primary, 2 | 614651 |
| PDSS2 | 6q21 | Coenzyme Q10 deficiency, primary, 3 | 614652 |
| PEX1 | 7q21.2 | Peroxisome biogenesis disorder 1A (Zellweger) | 214100 |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | 601539 | ||
| PEX10 | 1p36.32 | Peroxisome biogenesis disorder 6A (Zellweger) | 614870 |
| Peroxisome biogenesis disorder 6B | 614871 | ||
| PEX12 | 17q12 | Peroxisome biogenesis disorder 3A (Zellweger | 614859 |
| Peroxisome biogenesis disorder 3B | 266510 | ||
| PEX13 | 2p16.1 | Peroxisome biogenesis disorder 11A (Zellweger | 614883 |
| Peroxisome biogenesis disorder 11 B | 614885 | ||
| PEX26 | 22q11.21 | Peroxisome biogenesis disorder 7A (Zellweger) | 614872 |
| Peroxisome biogenesis disorder 7B | 614873 | ||
| PEX5 | 3q26.33 | Peroxisome biogenesis disorder 7B | 611058 |
| PEX7 | 6q23.3 | Peroxisome biogenesis disorder 9B | 614879 |
| Rhizomelic chondrodysplasia punctata, type 1 | 215100 | ||
| PKHD1 | 6p12.3-p12.2 | Polycystic kidney and hepatic disease | 263200 |
| PKLR | 1q22 | Adenosine triphosphate, elevated, of erythrocytes | 102900 |
| Pyruvate kinase deficiency | 266200 | ||
| PLA2G6 | 22q13.1 | Infantile neuroaxonal dystrophy 1 | 256600 |
| Neurodegeneration with brain iron accumulation 2B | 610217 | ||
| Parkinson disease 14, autosomal recessive | 612953 | ||
| PLCE1 | 10q23.33 | Nephrotic syndrome, type 3 | 610725 |
| PLDN | 15q21.1 | Hermansky-pudlak syndrome 9 | 614171 |
| PLEC | 8q24.3 | Epidermolysis bullosa simplex with pyloric atresia | 612138 |
| Epidermolysis bullosa simplex, Ogna type | 131950 | ||
| Muscular dystrophy with epidermolysis bullosa simplex | 226670 | ||
| Muscular dystrophy, limb-girdle, type 2Q | 613723 | ||
| PLEKHG5 | 1p36.31 | Charcot-Marie-Tooth disease, recessive intermediate C | 615376 |
| Spinal muscular atrophy, distal, autosomal recessive, 4 | 611067 | ||
| PLG | 6q26 | Dysplasminogenemia | 217090 |
| Plasminogen deficiency, type I | 217090 | ||
| PLOD1 | 1p36.22 | Ehlers-Danlos syndrome, type VI | 225400 |
| PLP1 | Xq22.2 | Pelizaeus-Merzbacher disease | 312080 |
| Spastic paraplegia 2, X-linked | 312920 | ||
| PMM2 | 16p13.2 | Congenital disorder of glycosylation, type Ia | 212065 |
| PMP22 | 17p12 | Charcot-Marie-Tooth disease, type 1A | 118220 |
| Charcot-Marie-Tooth disease, type 1E | 118300 | ||
| Dejerine-Sottas disease | 145900 | ||
| Neuropathy, inflammatory demyelinating | 139393 | ||
| Neuropathy, recurrent, with pressure palsies | 162500 | ||
| Roussy-Levy syndrome | 180800 | ||
| PNPO | 17q21.32 | Pyridoxamine 5′-phosphate oxidase deficiency | 610090 |
| POLG | 15q26.1 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | 203700 |
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | 613662 | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | 607459 | ||
| Progressive external ophthalmoplegia, autosomal recessive | 258450 | ||
| POMGNT1 | 1p34.1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental
retardation), type B, 3 |
613151 | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 | ||
| POMT1 | 9q34.13 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
anomalies), type A, 1 |
236670 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | 613155 | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 | ||
| POMT2 | 14q24.3 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental
retardation), type B, 2 |
613156 | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 | ||
| POR | 7q11.23 | Antley-Bixler syndrome with genital anomalies and disordered
steroidogenesis |
201750 |
| Disordered steroidogenesis due to cytochrome P450 oxidoreductase | 613571 | ||
| POU1F1 | 3p11.2 | Pituitary hormone deficiency, combined, 1 | 613038 |
| PPT1 | 1p34.2 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
| PQBP1 | Xp11.23 | Renpenning syndrome | 309500 |
| PRF1 | 10q22.1 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 |
| Lymphoma, non-Hodgkin | 605027 | ||
| PROP1 | 5q35.3 | Pituitary hormone deficiency, combined, 2 | 262600 |
| PRPS1 | Xq22.3 | Arts syndrome | 301835 |
| Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 | ||
| Deafness, X-linked 1 | 304500 | ||
| Gout, PRPS-related | 300661 | ||
| Phosphoribosylpyrophosphate synthetase superactivity | 300661 | ||
| PRSS12 | 4q26 | Mental retardation, autosomal recessive 1 | 249500 |
| PRX | 19q13.2 | Charcot-Marie-Tooth disease, type 4F | 614895 |
| Dejerine-Sottas disease | 145900 | ||
| PSAP | 10q22.1 | Combined SAP deficiency | 611721 |
| Gaucher disease, atypical | 610539 | ||
| Krabbe disease, atypical | 611722 | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | 249900 | ||
| PTEN | 10q23.31 | Bannayan-Riley-Ruvalcaba syndrome | 153480 |
| Cowden syndrome 1 | 158350 | ||
| Lhermitte-Duclos syndrome | 158350 | ||
| Macrocephaly/autism syndrome | 605309 | ||
| VATER association with macrocephaly and ventriculomegaly | 276950 | ||
| PTH1R | 3p21.31 | Chondrodysplasia, Blomstrand type | 215045 |
| Eiken syndrome | 600002 | ||
| Failure of tooth eruption, primary | 125350 | ||
| Metaphyseal chondrodysplasia, Murk Jansen type | 156400 | ||
| PYGM | 11q13.1 | McArdle disease | 232600 |
| RAB23 | 6p11.2 | Carpenter syndrome | 201000 |
| RAB27A | 15q21.3 | Griscelli syndrome, type 2 | 607624 |
| RAB39B | Xq28 | Waisman syndrome | 311510 |
| Mental retardation, X-linked 72 | 300271 | ||
| RAB3GAP1 | 2q21.3 | Warburg micro syndrome 1 | 600118 |
| RAB3GAP2 | 1q41 | Martsolf syndrome | 212720 |
| Warburg micro syndrome 2 | 614225 | ||
| RAG1 | 11p12 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion.. | 609889 |
| Combined cellular and humoral immune defects with granulomas | 233650 | ||
| Omenn syndrome | 603554 | ||
| Severe combined immunodeficiency, B cell-negative | 601457 |
| RAG2 | 11p12 | Combined cellular and humoral immune defects with granulomas | 233650 |
| Omenn syndrome | 603554 | ||
| Severe combined immunodeficiency, B cell-negative | 601457 | ||
| RAPSN | 11p11.2 | Fetal akinesia deformation sequence | 208150 |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 | ||
| RELN | 7q22.1 | Lissencephaly 2 (Norman-Roberts type) | 257320 |
| Epilepsy, familial temporal lobe, 7 | 616436 | ||
| RFT1 | 3p21.1 | Congenital disorder of glycosylation, type In | 612015 |
| RMRP | 9p13.3 | Anauxetic dysplasia | 607095 |
| Cartilage-hair hypoplasia | 250250 | ||
| Metaphyseal dysplasia without hypotrichosis | 250460 | ||
| RNASEH2A | 19p13.2 | Aicardi-Goutieres syndrome 4 | 610333 |
| RNASEH2B | 13q14.3 | Aicardi-Goutieres syndrome 2 | 610181 |
| RNASEH2C | 11q13.1 | Aicardi-Goutieres syndrome 3 | 610329 |
| RPGRIP1L | 16q12.2 | COACH syndrome | 216360 |
| Joubert syndrome 7 | 611560 | ||
| Meckel syndrome 5 | 611561 | ||
| RPL10 | Xq28 | Autism, susceptibility to, X-linked 5 | 300847 |
| RPS6KA3 | Xp22.12 | Coffin-Lowry syndrome | 303600 |
| Mental retardation, X-linked 19 | 300844 | ||
| RRM2B | 8q22.3 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with
renal tubulopathy) |
612075 |
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 612075 | ||
| SACS | 13q12.12 | Spastic ataxia, Charlevoix-Saguenay type | 270550 |
| SAMHD1 | 20q11.23 | Aicardi-Goutieres syndrome 5 | 612952 |
| Chilblain lupus 2 | 614415 | ||
| SBDS | 7q11.21 | Shwachman-Bodian-Diamond syndrome | 260400 |
| SC5DL | 11q23.3 | Lathosterolosis | 607330 |
| SCNN1A | 12p13.31 | Bronchiectasis with or without elevated sweat chloride 2 | 613021 |
| Pseudohypoaldosteronism, type I | 264350 | ||
| SCNN1B | 16p12.2 | Bronchiectasis with or without elevated sweat chloride 1 | 211400 |
| Liddle syndrome | 177200 | ||
| Pseudohypoaldosteronism, type I | 264350 | ||
| SCNN1G | 16p12.2 | Bronchiectasis with or without elevated sweat chloride 3 | 613071 |
| Liddle syndrome | 177200 | ||
| Pseudohypoaldosteronism, type I | 264350 | ||
| SCO1 | 17p13.1 | Hepatic failure, early onset, and neurologic disorder | 603644 |
| SCO2 | 22q13.33 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase
deficiency 1 |
604377 |
| Myopia 6 | 608908 | ||
| SEPN1 | 1p36.11 | Muscular dystrophy, rigid spine, 1 | 602771 |
| Myopathy, congenital, with fiber-type disproportion | 255310 | ||
| SFTPB | 2p11.2 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 |
| SFTPC | 8p21.3 | Surfactant metabolism dysfunction, pulmonary, 2 | 610913 |
| SGSH | 17q25.3 | Mucopolysaccharidisis type IIIA (Sanfilippo A) | 252900 |
| SH2D1A | Xq25 | Lymphoproliferative syndrome, X-linked, 1 | 308240 |
| SHROOM4 | Xp11.22 | Stocco dos Santos X-linked mental retardation syndrome | 300434 |
| SIL1 | 5q31.2 | Marinesco-Sjogren syndrome | 248800 |
| SLC12A1 | 15q21.1 | Bartter syndrome, type 1 | 601678 |
| SLC12A6 | 15q14 | Agenesis of the corpus callosum with peripheral neuropathy | 218000 |
| SLC16A2 | Xq13.2 | Allan-Herndon-Dudley syndrome | 300523 |
| SLC17A5 | 6q13 | Salla disease | 604369 |
| Sialic acid storage disorder, infantile | 269920 | ||
| SLC22A5 | 5q31.1 | Carnitine deficiency, systemic primary | 212140 |
| SLC25A15 | 13q14.11 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | 238970 |
| SLC25A20 | 3p21.31 | Carnitine-acylcarnitine translocase deficiency | 212138 |
| SLC25A22 | 11p15.5 | Epileptic encephalopathy, early infantile, 3 | 609304 |
| SLC26A2 | 5q32 | Achondrogenesis Ib | 600972 |
| Atelosteogenesis II | 256050 | ||
| De la Chapelle dysplasia | 256050 | ||
| Diastrophic dysplasia | 222600 | ||
| Diastrophic dysplasia, broad bone-platyspondylic variant | 222600 | ||
| Epiphyseal dysplasia, multiple, 4 | 226900 | ||
| SLC35A1 | 6q15 | Congenital disorder of glycosylation, type IIf | 603585 |
| SLC35C1 | 11p11.2 | Congenital disorder of glycosylation, type IIc | 266265 |
| SLC35D1 | 1p31.3 | Schneckenbecken dysplasia | 269250 |
| SLC37A4 | 11q23.3 | Glycogen storage disease Ib | 232220 |
| Glycogen storage disease Ic | 232240 | ||
| SLC4A11 | 20p13 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 |
| Corneal endothelial dystrophy 2, autosomal recessive | 217700 | ||
| Corneal endothelial dystrophy and perceptive deafness | 217400 | ||
| SLC6A8 | Xq28 | Cerebral creatine deficiency syndrome 1 | 300352 |
| SLC9A6 | Xq26.3 | Mental retardation, X-linked syndromic, Christianson type | 300243 |
| SMN1 | 5q13.2 | Spinal muscular atrophy-1 | 253300 |
| Spinal muscular atrophy-2 | 253550 | ||
| Spinal muscular atrophy-3 | 253400 | ||
| Spinal muscular atrophy-4 | 271150 | ||
| SMPD1 | 11p15.4 | Niemann-Pick disease, type A | 257200 |
| Niemann-Pick disease, type B | 607616 | ||
| SMS | Xp22.11 | Mental retardation, X-linked, Snyder-Robinson type | 309583 |
| SNAP29 | 22q11.21 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma | 609528 |
| SOX3 | Xq27.1 | Mental retardation, X-linked, with isolated growth hormone deficiency | 300123 |
| Panhypopituitarism, X-linked | 312000 | ||
| SP110 | 2q37.1 | Hepatic venoocclusive disease with immunodeficiency | 235550 |
| SRD5A2 | 2p23.1 | Pseudovaginal perineoscrotal hypospadias | 264600 |
| SRD5A3 | 4q12 | Congenital disorder of glycosylation, type Iq | 612379 |
| Kahrizi syndrome | 612713 | ||
| ST3GAL3 | 1p34.1 | Epileptic encephalopathy, early infantile, 15 | 615006 |
| Mental retardation, autosomal recessive 12 | 611090 | ||
| ST3GAL5 | 2p11.2 | Amish infantile epilepsy syndrome | 609056 |
| STAR | 8p11.23 | Lipoid adrenal hyperplasia | 201710 |
| STAT1 | 2q32.2 | Immunodeficiency 31B, mycobacterial and viral infections, autosomal reces. | 613796 |
| STIM1 | 11p15.4 | Immunodeficiency 10 | 612783 |
| Myopathy, tubular aggregate, 1 | 160565 | ||
| Stormorken syndrome | 185070 | ||
| STRA6 | 15q24.1 | Microphthalmia, isolated, with coloboma 8 | 601186 |
| Microphthalmia, syndromic 9 | 601186 | ||
| STX11 | 6q24.2 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 |
| STXBP2 | 19p13.2 | Hemophagocytic lymphohistiocytosis, familial, 5 | 613101 |
| SUCLA2 | 13q14.2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or
without methylmalonic aciduria) |
612073 |
| SUCLG1 | 2p11.2 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | 245400 |
| SUOX | 12q13.2 | Sulfite oxidase deficiency | 272300 |
| SURF1 | 9q34.2 | Leigh syndrome, due to COX deficiency | 256000 |
| SYP | Xp11.23 | Mental retardation, X-linked 96 | 300802 |
| TAT | 16q22.2 | Tyrosinemia, type II | 276600 |
| TAZ | Xq28 | Barth syndrome | 302060 |
| TBCE | 1q42.3 | Hypoparathyroidism-retardation-dysmorphism syndrome | 241410 |
| Kenny-Caffey syndrome-1 | 244460 | ||
| TCF4 | 18q21.2 | Pitt-Hopkins syndrome | 610954 |
| TCIRG1 | 11q13.2 | Osteopetrosis, autosomal recessive 1 | 259700 |
| TGM1 | 14q12 | Ichthyosis, congenital, autosomal recessive 1 | 242300 |
| TH | 11p15.5 | Segawa syndrome, recessive | 605407 |
| TIMM8A | Xq22.1 | Deafness, X-linked 1, progressive | 300066 |
| Jensen syndrome | 311150 | ||
| Mohr-Tranebjaerg syndrome | 304700 |
| TK2 | 16q21 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | 609560 |
| TLR3 | 4q35.1 | Herpes simplex encephalitis, susceptibility to, 2 | 613002 |
| HIV1 infection, resistance to | 609423 | ||
| TMEM67 | 8q22.1 | COACH syndrome | 216360 |
| Joubert syndrome 6 | 610688 | ||
| Meckel syndrome 3 | 607361 | ||
| Nephronophthisis 11 | 613550 | ||
| Bardet-Biedl syndrome 14, modifier of | 209900 | ||
| TNFRSF11B | 8q24.12 | Paget disease of bone 5, juvenile-onset | 239000 |
| TPP1 | 11p15.4 | Ceroid lipofuscinosis, neuronal, 2 | 204500 |
| Spinocerebellar ataxia, autosomal recessive 7 | 609270 | ||
| TRAPPC9 | 8q24.3 | Mental retardation, autosomal recessive 13 | 613192 |
| TREX1 | 3p21.31 | Aicardi-Goutieres syndrome 1, dominant and recessive | 225750 |
| Chilblain lupus | 610448 | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | ||
| Systemic lupus erythematosus, susceptibility to | 152700 | ||
| TRIM37 | 17q22 | Mulibrey nanism | 253250 |
| TSEN54 | 17q25.1 | Pontocerebellar hypoplasia type 5 | 610204 |
| Pontocerebellar hypoplasia type 2A | 277470 | ||
| Pontocerebellar hypoplasia type 4 | 225753 | ||
| TSFM | 12q14.1 | Combined oxidative phosphorylation deficiency 3 | 610505 |
| TSHB | 1p13.2 | Hypothryoidism, congenital, nongoitrous 4 | 275100 |
| TSPYL1 | 6q22.1 | Sudden infant death with dysgenesis of the testes syndrome | 608800 |
| TTPA | 8q12.3 | Ataxia with isolated vitamin E deficiency | 277460 |
| TUBA1A | 12q13.12 | Lissencephaly 3 | 611603 |
| TUFM | 16p11.2 | Combined oxidative phosphorylation deficiency 4 | 610678 |
| TUSC3 | 8p22 | Mental retardation, autosomal recessive 7 | 611093 |
| TYK2 | 19p13.2 | Immunodeficiency 35 | 611521 |
| TYMP | 22q13.33 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 |
| UBA1 | Xp11.23 | Spinal muscular atrophy, X-linked 2, infantile | 301830 |
| UBE2A | Xq24 | Mental retardation, X-linked syndromic, Nascimento-type | 300860 |
| UBE3A | 15q11.2 | Angelman syndrome | 105830 |
| UBR1 | 15q15.2 | Johanson-Blizzard syndrome | 243800 |
| UNC13D | 17q25.1 | Hemophagocytic lymphohistiocytosis, familial, 3 | 608898 |
| UNC93B1 | 11q13.2 | Herpes simplex encephalitis, susceptibility to, 1 | 610551 |
| UPF3B | Xq24 | Mental retardation, X-linked, syndromic 14 | 300676 |
| UQCRB | 8q22.1 | Mitochondrial complex III deficiency, nuclear type 3 | 615158 |
| UQCRQ | 5q31.1 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 |
| UROS | 10q26.1-q26.2 | Porphyria, congenital erythropoietic | 263700 |
| USH1C | 11p15.1 | Deafness, autosomal recessive 18A | 602092 |
| Usher syndrome, type 1C | 276904 | ||
| USH1G | 17q25.1 | Usher syndrome, type 1G | 606943 |
| USH2A | 1q41 | Retinitis pigmentosa 39 | 613809 |
| Usher syndrome, type 2A | 276901 | ||
| VDR | 12q13.11 | Osteoporosis, involutional | 166710 |
| Rickets, vitamin D-resistant, type IIA | 277440 | ||
| VIPAR | 14q24.3 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 |
| VLDLR | 9p24.2 | Cerebellar hypoplasia and mental retardation with or without quadrupedal
locomotion 1 |
224050 |
| VPS13B | 8q22.2 | Cohen syndrome | 216550 |
| VPS33B | 15q26.1 | Arthrogryposis, renal dysfunction, and cholestasis 1 | 208085 |
| WAS | Xp11.23 | Neutropenia, severe congenital, X-linked | 300299 |
| Thrombocytopenia, X-linked | 313900 | ||
| Thrombocytopenia, X-linked, intermittent | 313900 | ||
| Wiskott-Aldrich syndrome | 301000 | ||
| WNT10A | 2q35 | Odontoonychodermal dysplasia | 257980 |
| Schopf-Schulz-Passarge syndrome | 224750 | ||
| Tooth agenesis, selective, 4 | 150400 | ||
| WNT3 | 17q21.31 | Tetra-amelia syndrome | 273395 |
| WNT7A | 3p25.1 | Fuhrmann syndrome | 228930 |
| Ulna and fibula, absence of, with severe limb deficiency | 276820 | ||
| XIAP | Xq25 | Lymphoproliferative syndrome, X-linked, 2 | 300635 |
| XPA | 9q22.33 | Xeroderma pigmentosum, group A | 278700 |
| XPC | 3p25.1 | Xeroderma pigmentosum, group C | 278720 |
| ZDHHC9 | Xq26.1 | Mental retardation, X-linked syndromic, Raymond type | 300799 |
| ZEB2 | 2q22.3 | Mowat-Wilson syndrome | 235730 |
| ZIC3 | Xq26.3 | Congenital heart defects, nonsyndromic, 1, X-linked | 306955 |
| Heterotaxy, visceral, 1, X-linked | 306955 | ||
| VACTERL association, X-linked | 314390 | ||
| ZMPSTE24 | 1p34.2 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 |
| Restrictive dermopathy, lethal | 275210 | ||
| ZNF41 | Xp11.23 | Zinc Finger Protein 41 | 314995 |
| ZNF469 | 16q24.2 | Brittle cornea syndrome 1 | 229200 |
| ZNF674 | Xp11.3-p11.2 | Zinc Finger Protein 674 | 300573 |
| ZNF711 | Xq21.1 | Mental retardation, X-linked 97 | 300803 |
| COL1A1 | 17q21.33 | Caffey disease | 114000 |
| Ehlers-Danlos syndrome, classic | 130000 | ||
| Ehlers-Danlos syndrome, type VIIA | 130060 | ||
| Osteogenesis imperfecta, type I | 166200 | ||
| Osteogenesis imperfecta, type II | 166210 | ||
| Osteogenesis imperfecta, type III | 259420 | ||
| Osteogenesis imperfecta, type IV | 166220 | ||
| Bone mineral density variation QTL, osteoporosis | 166710 | ||
| COL1A2 | 7q21.3 | Ehlers-Danlos syndrome, cardiac valvular form | 225320 |
| Ehlers-Danlos syndrome, type VIIB | 130060 | ||
| Osteogenesis imperfecta, type II | 166210 | ||
| Osteogenesis imperfecta, type III | 259420 | ||
| Osteogenesis imperfecta, type IV | 166220 | ||
| Osteoporosis, postmenopausal | 166710 | ||
| COL6A1 | 21q22.3 | Bethlem myopathy | 158810 |
| Ullrich congenital muscular dystrophy | 254090 | ||
| COL6A2 | 21q22.3 | Myosclerosis, congenital | 255600 |
| Bethlem myopathy | 158810 | ||
| Ullrich congenital muscular dystrophy | 254090 | ||
| COL6A3 | 2q37.3 | Bethlem myopathy | 158810 |
| Dystonia 27 | 616411 | ||
| Ullrich congenital muscular dystrophy | 254090 | ||
| DOK7 | 4p16.3 | Fetal akinesia deformation sequence | 208150 |
| Myasthenic syndrome, congenital, 10 | 254300 | ||
| G6PC | 17q21.31 | Glycogen storage disease Ia | 232200 |
| HIBCH | 2q32.2 | 3-hydroxyisobutryl-CoA hydrolase deficiency | 250620 |
| LMNA | 1q22 | Cardiomyopathy, dilated, 1A | 115200 |
| Charcot-Marie-Tooth disease, type 2B1 | 605588 | ||
| Emery-Dreifuss muscular dystrophy 2, AD | 181350 | ||
| Emery-Dreifuss muscular dystrophy 3, AR | 181350 | ||
| Heart-hand syndrome, Slovenian type | 610140 | ||
| Hutchinson-Gilford progeria | 176670 | ||
| Lipodystrophy, familial partial, 2 | 151660 | ||
| Malouf syndrome | 212112 | ||
| Mandibuloacral dysplasia | 248370 | ||
| Muscular dystrophy, congenital | 613205 | ||
| Muscular dystrophy, limb-girdle, type 1B | 159001 | ||
| Restrictive dermopathy, lethal | 275210 | ||
| OXCT1 | 5p13.1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | 245050 |
| UBE3A | 15q11.2 | Angelman syndrome | 105830 |
Le 613 malattie recessive rilevate dal Test di compatibilità genetica (TCG), dal 1 ° luglio 2020
Le 600 malattie recessive individuate mediante il Test di Compatibilità Genetica (TCG)