| 11q_terminal_deletion |
69 Phenopackets: Jacobsen syndrome |
| AAGAB |
3 Phenopackets: Keratoderma, palmoplantar, punctate type IA |
| ABCA4 |
1 Phenopacket: Retinitis pigmentosa 19 |
| ABCB7 |
18 Phenopackets: Anemia, sideroblastic, and spinocerebellar ataxia |
| ACBD6 |
45 Phenopackets: Neurodevelopmental disorder with progressive movement abnormalities |
| ACP4 |
2 Phenopackets: Amelogenesis imperfecta, type IJ |
| ACTA1 |
1 Phenopacket: Congenital myopathy 2A, typical, autosomal dominant |
| ACTB |
8 Phenopackets: Thrombocytopenia 8, with dysmorphic features and developmental delay |
| ACTN1 |
1 Phenopacket: Bleeding disorder, platelet-type, 15 |
| ACVR1 |
1 Phenopacket: Fibrodysplasia ossificans progressiva |
| ADA |
2 Phenopackets: Severe combined immunodeficiency due to ADA deficiency |
| ADA2 |
2 Phenopackets: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome |
| ADAMTS10 |
1 Phenopacket: Weill-Marchesani syndrome 1, recessive |
| ADAMTS15 |
5 Phenopackets: Arthrogryposis, distal, type 12 |
| ADAMTSL2 |
1 Phenopacket: Geleophysic dysplasia 1 |
| ADGRG1 |
7 Phenopackets: Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal) |
| ADRA2A |
3 Phenopackets: Lipodystrophy, familial partial, type 8 |
| AEBP1 |
5 Phenopackets: Ehlers-Danlos syndrome, classic-like, 2 |
| AGRN |
5 Phenopackets: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
| AIRE |
58 Phenopackets: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
| ALG9 |
6 Phenopackets: Congenital disorder of glycosylation, type Il |
| AMN |
2 Phenopackets: Imerslund-Grasbeck syndrome 2 |
| ANKH |
7 Phenopackets: Craniometaphyseal dysplasia, Chondrocalcinosis 2 |
| ANKRD11 |
337 Phenopackets: KBG syndrome |
| ANTXR1 |
2 Phenopackets: GAPO syndrome |
| ANTXR2 |
1 Phenopacket: Hyaline fibromatosis syndrome |
| APOLD1 |
4 Phenopackets: Bleeding disorder, vascular-type |
| APTX |
5 Phenopackets: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ARHGEF18 |
3 Phenopackets: Retinitis pigmentosa 78 |
| ARMC12 |
3 Phenopackets: Spermatogenic failure 90 |
| ARMC9 |
11 Phenopackets: Joubert syndrome 30 |
| ARPC5 |
2 Phenopackets: Immunodeficiency 133 with autoimmunity and autoinflammation |
| ASAH1 |
1 Phenopacket: Spinal muscular atrophy with progressive myoclonic epilepsy |
| ASCC3 |
11 Phenopackets: Intellectual developmental disorder, autosomal recessive 81 |
| ASPM |
22 Phenopackets: Microcephaly 5, primary, autosomal recessive |
| ASS1 |
5 Phenopackets: Citrullinemia |
| ATP13A2 |
44 Phenopackets: Kufor-Rakeb syndrome, Spastic paraplegia 78, autosomal recessive |
| ATP6V0C |
31 Phenopackets: Epilepsy, early-onset, 3, with or without developmental delay |
| ATP6V1A |
3 Phenopackets: Cutis laxa, autosomal recessive, type IID |
| ATP6V1E1 |
6 Phenopackets: Cutis laxa, autosomal recessive, type IIC |
| ATRX |
2 Phenopackets: Alpha-thalassemia/impaired intellectual development syndrome |
| AXIN1 |
7 Phenopackets: Craniometadiaphyseal osteosclerosis with hip dysplasia |
| B3GALT6 |
11 Phenopackets: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| BBS1 |
13 Phenopackets: Bardet-Biedl syndrome 1 |
| BBS2 |
4 Phenopackets: Bardet-Biedl syndrome 2 |
| BBS4 |
4 Phenopackets: Bardet-Biedl syndrome 4 |
| BBS5 |
4 Phenopackets: Bardet-Biedl syndrome 5 |
| BCKDHB |
3 Phenopackets: Maple syrup urine disease, type Ib |
| BCKDK |
6 Phenopackets: Branched-chain keto acid dehydrogenase kinase deficiency |
| BRAF |
1 Phenopacket: Cardiofaciocutaneous syndrome |
| BRD4 |
18 Phenopackets: Cornelia de Lange syndrome 6 |
| BRPF1 |
10 Phenopackets: Intellectual developmental disorder with dysmorphic facies and ptosis |
| CAD |
1 Phenopacket: Developmental and epileptic encephalopathy 50 616457 AR 3 |
| CALM1 |
4 Phenopackets: Long QT syndrome 14 |
| CALM2 |
2 Phenopackets: Long QT syndrome 15 |
| CAPN1 |
14 Phenopackets: Spastic paraplegia 76, autosomal recessive |
| CAPNS1 |
5 Phenopackets: Pulmonary hypertension, primary, 6 |
| CAPRIN1 |
14 Phenopackets: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline |
| CARD9 |
6 Phenopackets: Immunodeficiency 103, susceptibility to fungal infection |
| CASP2 |
7 Phenopackets: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly |
| CAV3 |
8 Phenopackets: Myopathy, distal, Tateyama type |
| CBLB |
3 Phenopackets: Autoimmune disease, multisystem, infantile-onset, 3 |
| CBS |
4 Phenopackets: Homocystinuria, B6-responsive and nonresponsive types |
| CCIN |
5 Phenopackets: Spermatogenic failure 91 |
| CCNQ |
6 Phenopackets: STAR syndrome |
| CDH3 |
2 Phenopackets: Hypotrichosis, congenital, with juvenile macular dystrophy |
| CDK10 |
9 Phenopackets: Al Kaissi syndrome |
| CDK5RAP2 |
1 Phenopacket: Microcephaly 3, primary, autosomal recessive |
| CENPJ |
3 Phenopackets: Microcephaly 6, primary, autosomal recessive |
| CEP295 |
4 Phenopackets: Seckel syndrome 11 |
| CFL2 |
2 Phenopackets: Nemaline myopathy 7, autosomal recessive |
| CHD7 |
6 Phenopackets: CHARGE syndrome |
| CHD8 |
79 Phenopackets: Intellectual developmental disorder with autism and macrocephaly |
| CHRDL1 |
1 Phenopacket: Megalocornea 1, X-linked |
| CHST14 |
1 Phenopacket: Ehlers-Danlos syndrome, musculocontractural type 1 |
| CHSY1 |
2 Phenopackets: Temtamy preaxial brachydactyly syndrome |
| CLCN1 |
1 Phenopacket: Myotonia congenita, dominant |
| CLDN16 |
51 Phenopackets: Hypomagnesemia 3, renal |
| CLXN |
3 Phenopackets: Ciliary dyskinesia, primary, 53 |
| CNTNAP2 |
63 Phenopackets: Pitt-Hopkins like syndrome 1 |
| COG3 |
4 Phenopackets: Congenital disorder of glycosylation, type IIbb |
| COG8 |
4 Phenopackets: Congenital disorder of glycosylation, type IIh |
| COL11A1 |
2 Phenopackets: Stickler syndrome, type II |
| COL2A1 |
1 Phenopacket: Stickler syndrome, type I |
| COL3A1 |
41 Phenopackets: Ehlers-Danlos syndrome, vascular type, Polymicrogyria with or without vascular-type EDS |
| COL5A1 |
1 Phenopacket: Ehlers-Danlos syndrome, classic type, 1 |
| COL5A2 |
1 Phenopacket: Ehlers-Danlos syndrome, classic type, 2 |
| COL6A1 |
4 Phenopackets: Bethlem myopathy 1A |
| COL6A2 |
7 Phenopackets: Ullrich congenital muscular dystrophy 1B |
| COL6A3 |
7 Phenopackets: Bethlem myopathy 1C, Ullrich congenital muscular dystrophy 1C |
| COMP |
2 Phenopackets: Pseudoachondroplasia |
| COQ4 |
51 Phenopackets: Coenzyme Q10 deficiency, primary, 7, Spastic ataxia 10, autosomal recessive |
| COQ7 |
6 Phenopackets: Neuronopathy, distal hereditary motor, autosomal recessive 9 |
| CORIN |
2 Phenopackets: Cardiomyopathy, familial hypertrophic, 30, atrial |
| CRELD1 |
21 Phenopackets: Jeffries-Lakhani neurodevelopmental syndrome, Atrioventricular septal defect, partial, with heterotaxy syndrome |
| CRX |
1 Phenopacket: Cone-rod retinal dystrophy-2 |
| CSTF2 |
3 Phenopackets: Intellectual developmental disorder, X-linked 113 |
| CTCF |
46 Phenopackets: Intellectual developmental disorder, autosomal dominant 21 |
| CTSA |
1 Phenopacket: Galactosialidosis |
| CWC27 |
10 Phenopackets: Retinitis pigmentosa with or without skeletal anomalies |
| CYLC1 |
2 Phenopackets: Spermatogenic failure, X-linked, 8, susceptibility to |
| CYP21A2 |
69 Phenopackets: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
| CYP27B1 |
1 Phenopacket: Vitamin D-dependent rickets, type I |
| DAW1 |
6 Phenopackets: Ciliary dyskinesia, primary, 52 |
| DBR1 |
4 Phenopackets: Xerosis and growth failure with immune and pulmonary dysfunction syndrome |
| DBT |
2 Phenopackets: Maple syrup urine disease, type II |
| DDX59 |
8 Phenopackets: Orofaciodigital syndrome V |
| DEPDC5 |
8 Phenopackets: Developmental and epileptic encephalopathy 111 |
| DHCR24 |
10 Phenopackets: Desmosterolosis |
| DHCR7 |
1 Phenopacket: Smith-Lemli-Opitz syndrome |
| DLG5 |
2 Phenopackets: Yuksel-Vogel-Bauser syndrome |
| DLL3 |
3 Phenopackets: Spondylocostal dysostosis 1, autosomal recessive |
| DNM2 |
4 Phenopackets: Centronuclear myopathy 1 |
| DOCK11 |
12 Phenopackets: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked |
| DOCK8 |
13 Phenopackets: Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections |
| DRG1 |
4 Phenopackets: Tan-Almurshedi syndrome |
| DVL1 |
16 Phenopackets: Robinow syndrome, autosomal dominant 2 |
| DYM |
2 Phenopackets: Dyggve-Melchior-Clausen disease |
| DYRK1A |
2 Phenopackets: Intellectual developmental disorder, autosomal dominant 7 |
| EDA |
1 Phenopacket: Ectodermal dysplasia 1, hypohidrotic, X-linked |
| EFEMP1 |
9 Phenopackets: Glaucoma 1, open angle, H, Cutis laxa, autosomal recessive, type ID |
| EFNB1 |
6 Phenopackets: Craniofrontonasal dysplasia |
| EHMT1 |
125 Phenopackets: Kleefstra syndrome 1 |
| EIF4A2 |
15 Phenopackets: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| EP300 |
9 Phenopackets: Rubinstein-Taybi syndrome 2 |
| EPB42 |
1 Phenopacket: Spherocytosis, type 5 |
| EPG5 |
17 Phenopackets: Vici syndrome |
| ERCC3 |
2 Phenopackets: Trichothiodystrophy 2, photosensitive |
| ERCC6 |
1 Phenopacket: Cockayne syndrome, type B |
| ERCC8 |
10 Phenopackets: Cockayne syndrome, type A |
| ERF |
6 Phenopackets: Chitayat syndrome |
| ERI1 |
10 Phenopackets: Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Hoxha-Aliu syndrome |
| ESAM |
14 Phenopackets: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |
| EXTL3 |
14 Phenopackets: Immunoskeletal dysplasia with neurodevelopmental abnormalitie |
| EZH1 |
19 Phenopackets: EZH1-related neurodevelopmental disorder |
| FANCC |
4 Phenopackets: Fanconi anemia, complementation group C |
| FANCI |
4 Phenopackets: Fanconi anemia, complementation group I |
| FBLN5 |
5 Phenopackets: Cutis laxa, autosomal recessive, type IA |
| FBN1 |
144 Phenopackets: Ectopia lentis, familial, Marfan syndrome, Acromicric dysplasia, Stiff skin syndrome, Marfan lipodystrophy syndrome, Geleophysic dysplasia 2 |
| FBN2 |
14 Phenopackets: Contractural arachnodactyly, congenital |
| FBXL4 |
94 Phenopackets: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
| FBXO11 |
56 Phenopackets: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| FBXO7 |
12 Phenopackets: Parkinson disease 15, autosomal recessive |
| FERMT3 |
1 Phenopacket: Leukocyte adhesion deficiency, type III |
| FGD1 |
16 Phenopackets: Aarskog-Scott syndrome |
| FGFR2 |
2 Phenopackets: Apert syndrome |
| FGFR3 |
2 Phenopackets: Muenke syndrome, Hypochondroplasia |
| FILIP1 |
10 Phenopackets: Neuromuscular disorder, congenital, with dysmorphic facies |
| FKBP10 |
2 Phenopackets: Osteogenesis imperfecta, type XI |
| FLNB |
3 Phenopackets: Larsen syndrome |
| FOSL2 |
11 Phenopackets: Aplasia cutis-enamel dysplasia syndrome |
| FOXE1 |
7 Phenopackets: Bamforth-Lazarus syndrome |
| FOXG1 |
4 Phenopackets: Rett syndrome, congenital variant |
| FTH1 |
5 Phenopackets: Neurodegeneration with brain iron accumulation 9 |
| FYB1 |
8 Phenopackets: Thrombocytopenia 3 |
| FZD5 |
32 Phenopackets: Microphthalmia/coloboma 11 |
| GABBR1 |
4 Phenopackets: Neurodevelopmental disorder with language delay and variable cognitive abnormalities |
| GALC |
1 Phenopacket: Krabbe disease |
| GALE |
10 Phenopackets: Thrombocytopenia 13, syndromic |
| GALT |
1 Phenopacket: Galactosemia |
| GCDH |
7 Phenopackets: Glutaricaciduria, type I |
| GCSH |
9 Phenopackets: Multiple mitochondrial dysfunctions syndrome 7 |
| GIPC3 |
10 Phenopackets: Deafness, autosomal recessive 15 |
| GLB1 |
2 Phenopackets: GM1-gangliosidosis, type III |
| GLI3 |
82 Phenopackets: Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly, postaxial, types A1 and B |
| GLRA1 |
1 Phenopacket: Hyperekplexia 1 |
| GLUL |
9 Phenopackets: Developmental and epileptic encephalopathy 116 |
| GNAO1 |
2 Phenopackets: Developmental and epileptic encephalopathy 17 |
| GNAS |
114 Phenopackets: Pseudohypoparathyroidism Ia, Pseudopseudohypoparathyroidism, Osseous heteroplasia, progressive |
| GNB1 |
1 Phenopacket: Intellectual developmental disorder, autosomal dominant 42 |
| GNPTAB |
1 Phenopacket: Mucolipidosis III alpha/beta |
| GPSM2 |
2 Phenopackets: Chudley-McCullough syndrome |
| GRHPR |
1 Phenopacket: Hyperoxaluria, primary, type II |
| GSN |
1 Phenopacket: Amyloidosis, Finnish type |
| GTF2H5 |
1 Phenopacket: Trichothiodystrophy 3, photosensitive |
| HCN4 |
6 Phenopackets: Sick sinus syndrome 2 |
| HMBS |
7 Phenopackets: Leukoencephalopathy, porphyria-related, Encephalopathy, porphyria-related |
| HMGCR |
15 Phenopackets: Muscular dystrophy, limb-girdle, autosomal recessive 28 |
| HMGCS2 |
40 Phenopackets: HMG-CoA synthase-2 deficiency |
| HNF1B |
3 Phenopackets: Renal cysts and diabetes syndrome |
| HNRNPC |
13 Phenopackets: Intellectual developmental disorder, autosomal dominant 74 |
| HNRPA2B1 |
11 Phenopackets: Oculopharyngeal muscular dystrophy 2 |
| HOXC13 |
6 Phenopackets: Ectodermal dysplasia 9, hair/nail type |
| ICOSLG |
1 Phenopacket: Immunodeficiency 119 |
| IKZF1 |
82 Phenopackets: Immunodeficiency, common variable, 13 |
| INPPL1 |
9 Phenopackets: Opsismodysplasia |
| INSR |
3 Phenopackets: Donohue syndrome |
| INTS11 |
15 Phenopackets: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| IRF1 |
2 Phenopackets: Immunodeficiency 117, mycobacteriosis, autosomal recessive |
| ISCA2 |
16 Phenopackets: Multiple mitochondrial dysfunctions syndrome 4 |
| ITPA |
6 Phenopackets: Inosine triphosphatase deficiency |
| ITPR1 |
170 Phenopackets: Spinocerebellar ataxia 29, congenital nonprogressive, Gillespie syndrome, Spinocerebellar ataxia 15 |
| JAG1 |
1 Phenopacket: Alagille syndrome 1 |
| KCNH5 |
27 Phenopackets: Developmental and epileptic encephalopathy 112 |
| KCNJ2 |
4 Phenopackets: Short QT syndrome 3 |
| KCNQ1 |
3 Phenopackets: Jervell and Lange-Nielsen syndrome |
| KCNT1 |
8 Phenopackets: Developmental and epileptic encephalopathy 14 |
| KDM5A |
9 Phenopackets: El Hayek-Chahrour neurodevelopmental syndrome |
| KDM6A |
81 Phenopackets: Kabuki syndrome 2 |
| KDM6B |
73 Phenopackets: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| KIF5A |
5 Phenopackets: Spastic paraplegia 10, autosomal dominant |
| KMT2D |
65 Phenopackets: Kabuki Syndrome 1 |
| KRAS |
8 Phenopackets: Noonan syndrome 3, Cardiofaciocutaneous syndrome 2 |
| KRT10 |
4 Phenopackets: Epidermolytic hyperkeratosis 2B, autosomal recessive |
| KRT9 |
1 Phenopacket: Palmoplantar keratoderma, epidermolytic, 1 |
| LAMB2 |
13 Phenopackets: Nephrotic syndrome, type 5, with or without ocular abnormalities |
| LAMB3 |
1 Phenopacket: Amelogenesis imperfecta, type IA |
| LIPT2 |
3 Phenopackets: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
| LITAF |
1 Phenopacket: Charcot-Marie-Tooth disease, type 1C |
| LMNA |
266 Phenopackets: Cardiomyopathy, dilated, 1A, Lipodystrophy, familial partial, type 2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hutchinson-Gilford progeria, LMNA-related congenital muscular dystrophy |
| LMX1B |
1 Phenopacket: Nail-patella syndrome |
| LONP1 |
8 Phenopackets: CODAS syndrome |
| LYN |
4 Phenopackets: Autoinflammatory disease, systemic, with vasculitis |
| LYST |
1 Phenopacket: Chediak-Higashi syndrome |
| LZTR1 |
38 Phenopackets: Noonan syndrome 2 |
| MAF |
1 Phenopacket: Ayme-Gripp syndrome |
| MANF |
2 Phenopackets: Diabetes, deafness, developmental delay, and short stature syndrome |
| MAP3K14 |
3 Phenopackets: Immunodeficiency 112 |
| MAPK8IP3 |
20 Phenopackets: Neurodevelopmental disorder with or without variable brain abnormalities |
| MAX |
3 Phenopackets: Polydactyly-macrocephaly syndrome |
| MCOLN1 |
2 Phenopackets: Mucolipidosis IV |
| MCTS1 |
7 Phenopackets: Immunodeficiency 118, mycobacteriosis |
| MECR |
2 Phenopackets: Optic atrophy 16 |
| MED23 |
3 Phenopackets: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy |
| MEIOB |
5 Phenopackets: Premature ovarian failure 23 |
| MEN1 |
1 Phenopacket: Multiple endocrine neoplasia 1 |
| MFN2 |
1 Phenopacket: Charcot-Marie-Tooth disease, axonal, type 2A2A |
| MITF |
1 Phenopacket: Tietz albinism-deafness syndrome |
| MPL |
1 Phenopacket: Thrombocythemia 2 |
| MPV17 |
60 Phenopackets: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| MRAS |
3 Phenopackets: Noonan syndrome-11 |
| MRPL39 |
3 Phenopackets: Combined oxidative phosphorylation deficiency 59 |
| MTOR |
1 Phenopacket: Smith-Kingsmore syndrome |
| MUSK |
8 Phenopackets: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
| MYCN |
3 Phenopackets: Megalencephaly-polydactyly syndrome |
| MYH3 |
2 Phenopackets: Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
| MYOT |
1 Phenopacket: Myopathy, myofibrillar, 3 |
| MYT1L |
1 Phenopacket: Intellectual developmental disorder, autosomal dominant 39 |
| NAA60 |
10 Phenopackets: Basal ganglia calcification, idiopathic, 9, autosomal recessive |
| NBAS |
67 Phenopackets: Short stature, optic nerve atrophy, and Pelger-Huet anomaly |
| NCF2 |
7 Phenopackets: Chronic granulomatous disease 2, autosomal recessive |
| NF1 |
181 Phenopackets: Neurofibromatosis, type 1 |
| NHLRC1 |
22 Phenopackets: Myoclonic epilepsy of Lafora 2 |
| NHS |
2 Phenopackets: Nance-Horan syndrome |
| NIPBL |
60 Phenopackets: Cornelia de Lange syndrome 1 |
| NKX6-2 |
33 Phenopackets: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| NLRP3 |
1 Phenopacket: Muckle-Wells syndrome |
| NOTCH2 |
1 Phenopacket: Hajdu-Cheney syndrome |
| NPC1 |
1 Phenopacket: Niemann-Pick disease, type C1 |
| NPHS1 |
3 Phenopackets: Nephrotic syndrome, type 1 |
| NPR2 |
1 Phenopacket: Acromesomelic dysplasia 1, Maroteaux type |
| NRAS |
14 Phenopackets: Noonan syndrome 6 |
| NRL |
1 Phenopacket: Retinitis pigmentosa 27 |
| NSUN2 |
12 Phenopackets: Intellectual developmental disorder, autosomal recessive 5 |
| NSUN6 |
3 Phenopackets: Intellectual developmental disorder, autosomal recessive 82 |
| NT5C2 |
2 Phenopackets: Spastic paraplegia 45, autosomal recessive |
| NUP54 |
3 Phenopackets: Dystonia 37, early-onset, with striatal lesions |
| OCA2 |
1 Phenopacket: Albinism, oculocutaneous, type II |
| OFD1 |
31 Phenopackets: Orofaciodigital syndrome I, Joubert syndrome 10, Simpson-Golabi-Behmel syndrome, type 2 |
| OTUD6B |
1 Phenopacket: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| OTUD7A |
2 Phenopackets: Neurodevelopmental disorder with hypotonia and seizures |
| PANK2 |
15 Phenopackets: Neurodegeneration with brain iron accumulation 1 |
| PARK7 |
1 Phenopacket: Parkinson disease 7, autosomal recessive early-onset |
| PAX3 |
2 Phenopackets: Waardenburg syndrome, type 3 |
| PAX4 |
1 Phenopacket: Maturity-onset diabetes of the young, type IX |
| PCDH19 |
7 Phenopackets: Developmental and epileptic encephalopathy 9 |
| PCYT1A |
2 Phenopackets: Lipodystrophy, congenital generalized, type 5 |
| PI4K2A |
4 Phenopackets: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities |
| PIEZO2 |
11 Phenopackets: Arthrogryposis, distal, with impaired proprioception and touch |
| PIGA |
27 Phenopackets: Multiple congenital anomalies-hypotonia-seizures syndrome 2, Neurodevelopmental disorder with epilepsy and hemochromatosis |
| PKHD1L1 |
4 Phenopackets: Deafness, autosomal recessive 124 |
| PLAA |
14 Phenopackets: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| PLAAT3 |
7 Phenopackets: Lipodystrophy, familial partial, type 9 |
| PLCB4 |
5 Phenopackets: Auriculocondylar syndrome 2B |
| PMP22 |
1 Phenopacket: Neuropathy, recurrent, with pressure palsies |
| PNPLA6 |
17 Phenopackets: Boucher-Neuhauser syndrome, Oliver-McFarlane syndrome |
| POGLUT1 |
4 Phenopackets: Muscular dystrophy, limb-girdle, autosomal recessive 21 |
| POGZ |
117 Phenopackets: White-Sutton syndrome |
| POLR1A |
22 Phenopackets: Acrofacial dysostosis, Cincinnati type, Leukodystrophy, hypomyelinating, 27 |
| POLR1D |
10 Phenopackets: Treacher Collins syndrome 2 |
| POMGNT1 |
4 Phenopackets: Retinitis pigmentosa 76 |
| POT1 |
4 Phenopackets: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 |
| PPIB |
6 Phenopackets: Osteogenesis imperfecta, type IX |
| PPP1R13L |
14 Phenopackets: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities |
| PPP2R1A |
60 Phenopackets: Houge-Janssen syndrome 2 |
| PRDM10 |
7 Phenopackets: Birt-Hogg-Dube syndrome 2 |
| PREPL |
1 Phenopacket: Myasthenic syndrome, congenital, 22 |
| PRF1 |
3 Phenopackets: Hemophagocytic lymphohistiocytosis, familial, 2 |
| PRPF3 |
2 Phenopackets: Retinitis pigmentosa 18 |
| PRPF31 |
9 Phenopackets: Retinitis pigmentosa 11 |
| PRTHD1 |
7 Phenopackets: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
| PSEN2 |
3 Phenopackets: Alzheimer disease-4 |
| PSMB9 |
3 Phenopackets: Proteasome-associated autoinflammatory syndrome 6 |
| PSMD12 |
4 Phenopackets: Stankiewicz-Isidor syndrome |
| PTPN11 |
70 Phenopackets: Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1 |
| PUM1 |
5 Phenopackets: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism |
| PYCR1 |
6 Phenopackets: Cutis laxa, autosomal recessive, type IIB |
| PYGL |
1 Phenopacket: Glycogen storage disease VI |
| RAB34 |
5 Phenopackets: Orofaciodigital syndrome XX |
| RAI1 |
2 Phenopackets: Smith-Magenis syndrome |
| RAP1B |
5 Phenopackets: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies |
| RAP1GDS1 |
6 Phenopackets: Alfadhel syndrome |
| RECQL2 |
2 Phenopackets: Werner syndrome |
| RERE |
22 Phenopackets: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RET |
2 Phenopackets: Multiple endocrine neoplasia IIA |
| RETREG1 |
4 Phenopackets: Neuropathy, hereditary sensory and autonomic, type IIB |
| RFX5 |
8 Phenopackets: MHC class II deficiency 3 |
| RFXANK |
17 Phenopackets: MHC class II deficiency 2 |
| RFXAP |
4 Phenopackets: MHC class II deficiency 4 |
| RGS9 |
5 Phenopackets: Prolonged electroretinal response suppression 1 |
| RGS9BP |
5 Phenopackets: Prolonged electroretinal response suppression 2 |
| RNF31 |
2 Phenopackets: Immunodeficiency 115 with autoinflammation |
| RNU4-2 |
61 Phenopackets: ReNU syndrome |
| ROR2 |
32 Phenopackets: Robinow syndrome, autosomal recessive |
| RPGRIP1 |
100 Phenopackets: Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RPS19 |
11 Phenopackets: Diamond-Blackfan anemia 1 |
| RRM1 |
5 Phenopackets: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 |
| RTTN |
7 Phenopackets: Microcephaly, short stature, and polymicrogyria with seizures |
| RUNX2 |
8 Phenopackets: Cleidocranial dysplasia |
| RYR2 |
1 Phenopacket: Ventricular tachycardia, catecholaminergic polymorphic, 1 |
| SALL1 |
1 Phenopacket: Townes-Brocks syndrome 1 |
| SAMD7 |
8 Phenopackets: Macular dystrophy with or without cone dysfunction |
| SAMD9L |
21 Phenopackets: Ataxia-pancytopenia syndrome |
| SATB2 |
158 Phenopackets: Glass syndrome |
| SC5D |
3 Phenopackets: Lathosterolosis |
| SCAF4 |
11 Phenopackets: Fliedner-Zweier syndrome |
| SCARF2 |
6 Phenopackets: Van den Ende-Gupta syndrome |
| SCN2A |
393 Phenopackets: Developmental and epileptic encephalopathy 11, Seizures, benign familial infantile, 3 |
| SCN5A |
2 Phenopackets: Brugada syndrome 1 |
| SCO2 |
37 Phenopackets: Mitochondrial complex IV deficiency, nuclear type 2, Myopia 6 |
| SEC61A1 |
19 Phenopackets: Immunodeficiency, common variable, 15, Tubulointerstitial kidney disease, autosomal dominant, 5, Neutropenia, severe congenital, 11, autosomal dominant |
| SERAC1 |
1 Phenopacket: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| SETBP1 |
1 Phenopacket: Schinzel-Giedion midface retraction syndrome |
| SETD2 |
29 Phenopackets: Intellectual developmental disorder, autosomal dominant 70, Luscan-Lumish syndrome, Rabin-Pappas syndrome |
| SF3B4 |
26 Phenopackets: Acrofacial dysostosis 1, Nager type |
| SHARPIN |
2 Phenopackets: Autoinflammation with episodic fever and immune dysregulation |
| SKIC3 |
2 Phenopackets: Trichohepatoenteric syndrome 1 |
| SLC19A1 |
4 Phenopackets: Immunodeficiency 114, folate-responsive |
| SLC32A1 |
38 Phenopackets: Generalized epilepsy with febrile seizures plus, type 12, Developmental and epileptic encephalopathy 114 |
| SLC35C1 |
2 Phenopackets: Congenital disorder of glycosylation, type IIc |
| SLC45A2 |
30 Phenopackets: Albinism, oculocutaneous, type IV |
| SLC4A1 |
33 Phenopackets: Distal renal tubular acidosis 1, Distal renal tubular acidosis 4 with hemolytic anemia, Spherocytosis, type 4, Cryohydrocytosis |
| SLC4A10 |
16 Phenopackets: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| SLC4A11 |
4 Phenopackets: Corneal dystrophy, Fuchs endothelial, 4 |
| SLC6A8 |
1 Phenopacket: Cerebral creatine deficiency syndrome 1 |
| SLC9A3 |
7 Phenopackets: Diarrhea 8, secretory sodium, congenital |
| SMAD2 |
23 Phenopackets: Loeys-Dietz syndrome 6, Congenital heart defects, multiple types, 8, with or without heterotaxy |
| SMAD3 |
49 Phenopackets: Loeys-Dietz syndrome 3 |
| SMAD4 |
12 Phenopackets: Myhre syndrome |
| SMARCB1 |
32 Phenopackets: Rhabdoid tumor predisposition syndrome 1, Coffin-Siris syndrome 3 |
| SMARCC2 |
65 Phenopackets: Coffin-Siris syndrome 8 |
| SMC3 |
3 Phenopackets: Cornelia de Lange syndrome 3 |
| SNAP29 |
1 Phenopacket: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
| SNAPC4 |
10 Phenopackets: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
| SNF8 |
9 Phenopackets: Developmental and epileptic encephalopathy 115, Neurodevelopmental disorder plus optic atrophy |
| SNX14 |
9 Phenopackets: Spinocerebellar ataxia, autosomal recessive 20 |
| SOCS1 |
20 Phenopackets: Autoinflammatory syndrome, familial, with or without immunodeficiency |
| SOD1 |
1 Phenopacket: Amyotrophic lateral sclerosis 1 |
| SON |
52 Phenopackets: ZTTK SYNDROME |
| SP7 |
1 Phenopacket: Osteogenesis imperfecta, type XII |
| SPG7 |
3 Phenopackets: Spastic paraplegia 7, autosomal recessive |
| SPIN4 |
1 Phenopacket: Lui-Jee-Baron syndrome |
| SPINK5 |
1 Phenopacket: Netherton syndrome |
| SPINT2 |
1 Phenopacket: Diarrhea 3, secretory sodium, congenital, syndromic |
| SPRED1 |
1 Phenopacket: Legius syndrome |
| SPTA1 |
1 Phenopacket: Elliptocytosis-2 |
| SPTAN1 |
85 Phenopackets: Developmental and epileptic encephalopathy 5, Developmental delay with or without epilepsy, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, Neuronopathy, distal hereditary motor, autosomal dominant 11 |
| SPTSSA |
3 Phenopackets: Spastic paraplegia 90B, autosomal recessive, Spastic paraplegia 90A, autosomal dominant |
| SRSF1 |
15 Phenopackets: Developmental and epileptic encephalopathy 28 |
| ST14 |
4 Phenopackets: Ichthyosis, congenital, autosomal recessive 11 |
| STAT3 |
1 Phenopacket: Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections |
| STK11 |
1 Phenopacket: Peutz-Jeghers syndrome |
| STX4 |
8 Phenopackets: Deafness, autosomal recessive 123 |
| STXBP1 |
463 Phenopackets: Developmental and epileptic encephalopathy 4 |
| SUOX |
35 Phenopackets: Sulfite oxidase deficiency |
| SV2A |
2 Phenopackets: Developmental and epileptic encephalopathy 113 |
| SYCP2L |
2 Phenopackets: Premature ovarian failure 24 |
| TAF4 |
10 Phenopackets: Intellectual developmental disorder, autosomal dominant 73 |
| TAMM41 |
3 Phenopackets: Combined oxidative phosphorylation deficiency 56 |
| TANGO2 |
15 Phenopackets: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
| TAP2 |
4 Phenopackets: MHC class I deficiency 2 |
| TBCK |
41 Phenopackets: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| TBL1XR1 |
1 Phenopacket: Pierpont syndrome |
| TBX1 |
26 Phenopackets: DiGeorge syndrome |
| TBX5 |
156 Phenopackets: Holt-Oram syndrome |
| TCOF1 |
4 Phenopackets: Treacher Collins syndrome 1 |
| TECRL |
3 Phenopackets: Ventricular tachycardia, catecholaminergic polymorphic, 3 |
| TEFM |
7 Phenopackets: Combined oxidative phosphorylation deficiency 58 |
| TFAP2A |
7 Phenopackets: Branchiooculofacial syndrome |
| TGFB1 |
1 Phenopacket: Camurati-Engelmann disease |
| TGFB2 |
36 Phenopackets: Loeys-Dietz syndrome 4 |
| TGFB3 |
43 Phenopackets: Loeys-Dietz syndrome 5 |
| TGFBR1 |
41 Phenopackets: Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma, susceptibility to |
| TGFBR2 |
47 Phenopackets: Loeys-Dietz syndrome 2 |
| TGIF1 |
2 Phenopackets: Holoprosencephaly 4 |
| THBS2 |
3 Phenopackets: Ehlers-Danlos syndrome, classic-like, 3 |
| TINF2 |
1 Phenopacket: Dyskeratosis congenita, autosomal dominant 3 |
| TJP2 |
1 Phenopacket: Cholestasis, progressive familial intrahepatic 4 |
| TMEM199 |
7 Phenopackets: Congenital disorder of glycosylation, type Iip |
| TMEM260 |
9 Phenopackets: Structural heart defects and renal anomalies syndrome |
| TMEM38B |
3 Phenopackets: Osteogenesis imperfecta, type XIV |
| TMTC4 |
2 Phenopackets: Deafness, autosomal recessive 122 |
| TOMM7 |
2 Phenopackets: Garg-Mishra progeroid syndrome |
| TP53RK |
3 Phenopackets: Galloway-Mowat syndrome 4 |
| TPM2 |
8 Phenopackets: Congenital myopathy 23 |
| TPM3 |
1 Phenopacket: Congenital myopathy 4B, autosomal recessive |
| TRAF7 |
45 Phenopackets: Cardiac, facial, and digital anomalies with developmental delay |
| TRMT10C |
2 Phenopackets: Combined oxidative phosphorylation deficiency 30 |
| TRPS1 |
1 Phenopacket: Trichorhinophalangeal syndrome, type I |
| TSC1 |
5 Phenopackets: Tuberous sclerosis-1 |
| TSC2 |
9 Phenopackets: Tuberous sclerosis-2 |
| TSPOAP1 |
3 Phenopackets: Dystonia 22, adult-onset |
| TUBB2B |
1 Phenopacket: Cortical dysplasia, complex, with other brain malformations 7 |
| TYRP1 |
2 Phenopackets: Albinism, oculocutaneous, type III |
| U2AF2 |
49 Phenopackets: Developmental delay, dysmorphic facies, and brain anomalies |
| UBAP2L |
12 Phenopackets: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
| UMOD |
207 Phenopackets: Tubulointerstitial kidney disease, autosomal dominant, 1, Tubulointerstitial kidney disease, autosomal dominant, 3, Tubulointerstitial kidney disease, autosomal dominant, 2 |
| USB1 |
1 Phenopacket: Poikiloderma with neutropenia |
| VCP |
1 Phenopacket: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 |
| VPS13A |
2 Phenopackets: Choreoacanthocytosis |
| VPS13B |
2 Phenopackets: Cohen syndrome |
| VPS13C |
4 Phenopackets: Parkinson disease 23, autosomal recessive, early onset |
| VRK1 |
8 Phenopackets: Neuronopathy, distal hereditary motor, autosomal recessive 10 |
| WDR26 |
15 Phenopackets: Skraban-Deardorff syndrome |
| WFS1 |
10 Phenopackets: Wolfram syndrome 1 |
| WNK1 |
1 Phenopacket: Neuropathy, hereditary sensory and autonomic, type II |
| WNT1 |
1 Phenopacket: Osteogenesis imperfecta, type XV |
| WWOX |
38 Phenopackets: Spinocerebellar ataxia, autosomal recessive 12, Developmental and epileptic encephalopathy 28 |
| ZFX |
19 Phenopackets: Intellectual developmental disorder, X-linked syndromic 37 |
| ZIC2 |
2 Phenopackets: Holoprosencephaly 5 |
| ZIC3 |
2 Phenopackets: Heterotaxy, visceral, 1, X-linked |
| ZMYM3 |
33 Phenopackets: Intellectual developmental disorder, X-linked 112 |
| ZNF462 |
39 Phenopackets: Weiss-Kruszka syndrome |
| ZSWIM6 |
16 Phenopackets: Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |