source_database,source_accession,name,host_proteins
UniProt,DI-02062,Spermatogenic failure Y-linked 2,1
UniProt,DI-05872,Oculopharyngodistal myopathy 2,1
UniProt,DI-04211,"Muscular dystrophy, limb-girdle, autosomal dominant 3",1
UniProt,DI-02978,Cocoon syndrome,1
UniProt,DI-06116,Bartsocas-Papas syndrome 2,1
UniProt,DI-01708,Hepatocellular carcinoma,2
UniProt,DI-02877,Caudal duplication anomaly,1
UniProt,DI-06785,Craniometadiaphyseal osteosclerosis with hip dysplasia,1
UniProt,DI-06510,Nephrotic syndrome 26,1
UniProt,DI-06527,Bent bone dysplasia syndrome 2,1
UniProt,DI-06900,MHC class I deficiency 3,1
UniProt,DI-02903,von Willebrand disease 1,1
UniProt,DI-02904,von Willebrand disease 2,1
UniProt,DI-02734,von Willebrand disease 3,1
UniProt,DI-03519,"Myopathy, centronuclear, 4",1
UniProt,DI-00811,"Ceroid lipofuscinosis, neuronal, 2",1
UniProt,DI-03994,"Spinocerebellar ataxia, autosomal recessive, 7",1
UniProt,DI-05608,Stolerman neurodevelopmental syndrome,1
UniProt,DI-04020,Joubert syndrome 22,1
UniProt,DI-04631,Takenouchi-Kosaki syndrome,1
UniProt,DI-04002,Combined oxidative phosphorylation deficiency 19,1
UniProt,DI-05014,Stankiewicz-Isidor syndrome,1
UniProt,DI-05573,Oculoskeletodental syndrome,1
UniProt,DI-02726,"Leukoencephalopathy, cystic, without megalencephaly",1
UniProt,DI-06026,Immunodeficiency 76,1
UniProt,DI-02019,Myopathy with exercise intolerance Swedish type,1
UniProt,DI-02589,Restless legs syndrome 7,1
UniProt,DI-02817,Pseudohypoparathyroidism 1B,1
UniProt,DI-02865,Kabuki syndrome 1,1
UniProt,DI-06584,"Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome",1
UniProt,DI-03248,"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",1
UniProt,DI-05494,Wiedemann-Rautenstrauch syndrome,1
UniProt,DI-02928,Alpha-1-antitrypsin deficiency,1
UniProt,DI-03604,"Facioscapulohumeral muscular dystrophy 2, digenic",1
UniProt,DI-04955,Bosma arhinia microphthalmia syndrome,1
UniProt,DI-00558,Hermansky-Pudlak syndrome 2,1
UniProt,DI-04512,"Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type",1
UniProt,DI-03962,Reticulate acropigmentation of Kitamura,1
UniProt,DI-04003,Alzheimer disease 18,1
UniProt,DI-01371,"Immunodeficiency, common variable, 2",1
UniProt,DI-01814,Immunoglobulin A deficiency 2,1
UniProt,DI-02943,"Neuropathy, hereditary sensory and autonomic, 1C",1
UniProt,DI-02664,Factor II deficiency,1
UniProt,DI-01835,Ischemic stroke,2
UniProt,DI-02665,Thrombophilia due to thrombin defect,1
UniProt,DI-03351,"Pregnancy loss, recurrent, 2",1
UniProt,DI-06148,Combined oxidative phosphorylation deficiency 52,1
UniProt,DI-01257,"Neutropenia, severe congenital 3, autosomal recessive",1
UniProt,DI-06629,"Amyotrophic lateral sclerosis 27, juvenile",1
UniProt,DI-00547,"Neuropathy, hereditary sensory and autonomic, 1A",1
UniProt,DI-07135,Developmental and epileptic encephalopathy 120,1
UniProt,DI-04775,Hermansky-Pudlak syndrome 10,1
UniProt,DI-01070,Spinocerebellar ataxia 6,1
UniProt,DI-01570,"Migraine, familial hemiplegic, 1",1
UniProt,DI-00476,Episodic ataxia 2,1
UniProt,DI-04836,Developmental and epileptic encephalopathy 42,1
UniProt,DI-05131,"Intellectual developmental disorder, autosomal dominant 48",1
UniProt,DI-01630,Friedreich ataxia,1
UniProt,DI-06050,"Intellectual developmental disorder, autosomal dominant 64",1
UniProt,DI-01749,Mowat-Wilson syndrome,1
UniProt,DI-04488,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",1
UniProt,DI-05707,"Intellectual developmental disorder with speech delay, autism and dysmorphic facies",1
UniProt,DI-03385,Wiskott-Aldrich syndrome 2,1
UniProt,DI-04016,"Spastic ataxia 2, autosomal recessive",1
UniProt,DI-03491,Cornelia de Lange syndrome 4 with or without midline brain defects,1
UniProt,DI-05340,Mungan syndrome,1
UniProt,DI-05962,"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",1
UniProt,DI-05963,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",1
UniProt,DI-04615,Joubert syndrome 26,1
UniProt,DI-06523,Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities,1
UniProt,DI-02602,Breast cancer,1
UniProt,DI-03126,"Melanoma, cutaneous malignant 6",1
UniProt,DI-06259,"Usmani-Riazuddin syndrome, autosomal dominant",1
UniProt,DI-06260,"Usmani-Riazuddin syndrome, autosomal recessive",1
UniProt,DI-05881,"Periodic fever, immunodeficiency, and thrombocytopenia syndrome",1
UniProt,DI-02154,Peroxisome biogenesis disorder complementation group K,1
UniProt,DI-03596,Peroxisome biogenesis disorder 13A,1
UniProt,DI-06007,Intellectual developmental disorder with paroxysmal dyskinesia or seizures,1
UniProt,DI-05615,Holoprosencephaly 12 with or without pancreatic agenesis,1
UniProt,DI-05920,Vissers-Bodmer syndrome,1
UniProt,DI-01436,Cortisone reductase deficiency 1,1
UniProt,DI-02478,Glycogen storage disease 11,1
UniProt,DI-01310,Caffey disease,1
UniProt,DI-00436,"Ehlers-Danlos syndrome, classic type, 1",1
UniProt,DI-00442,"Ehlers-Danlos syndrome, arthrochalasia type, 1",1
UniProt,DI-02106,Osteogenesis imperfecta 1,1
UniProt,DI-02107,Osteogenesis imperfecta 2,1
UniProt,DI-02108,Osteogenesis imperfecta 3,1
UniProt,DI-02103,Osteogenesis imperfecta 4,1
UniProt,DI-05986,Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,1
UniProt,DI-02659,Osteoporosis,1
UniProt,DI-01771,Hyperlipoproteinemia 3,1
UniProt,DI-02694,Alzheimer disease 2,1
UniProt,DI-02290,Sea-blue histiocyte disease,1
UniProt,DI-01910,Lipoprotein glomerulopathy,1
UniProt,DI-03725,"Hydrocephalus, congenital, 2, with or without brain or eye anomalies",1
UniProt,DI-06978,Pan-Chung-Bellen syndrome,1
UniProt,DI-04031,Immunodeficiency 7,1
UniProt,DI-00439,"Ehlers-Danlos syndrome, vascular type",1
UniProt,DI-05505,Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome,1
UniProt,DI-02001,Mulibrey nanism,1
UniProt,DI-06763,Fliedner-Zweier syndrome,1
UniProt,DI-03318,"Cutis laxa, autosomal recessive, 1B",1
UniProt,DI-01990,"Molybdenum cofactor deficiency, type B1",1
UniProt,DI-02159,Phenylalanine hydroxylase deficiency,1
UniProt,DI-02666,Plasminogen deficiency,1
UniProt,DI-06124,"Angioedema, hereditary, 4",1
UniProt,DI-00102,"Cerebral amyloid angiopathy, CST3-related",1
UniProt,DI-00064,"Macular degeneration, age-related, 11",1
UniProt,DI-07044,"Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy",1
UniProt,DI-03204,Immunoglobulin kappa light chain deficiency,1
UniProt,DI-07102,Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities,1
UniProt,DI-01702,"Anemia, congenital, non-spherocytic hemolytic, 3",1
UniProt,DI-02731,Sarcoidosis 1,1
UniProt,DI-02604,Multiple sclerosis,2
UniProt,DI-02692,Rheumatoid arthritis,1
UniProt,DI-06645,C1q deficiency 2,1
UniProt,DI-01718,Hyperferritinemia with or without cataract,1
UniProt,DI-02044,Neurodegeneration with brain iron accumulation 3,1
UniProt,DI-04015,L-ferritin deficiency,1
UniProt,DI-02075,Noonan syndrome 5,1
UniProt,DI-01889,LEOPARD syndrome 2,1
UniProt,DI-04172,"Cardiomyopathy, dilated, 1NN",1
UniProt,DI-03777,"Dystonia 4, torsion, autosomal dominant",1
UniProt,DI-03778,"Leukodystrophy, hypomyelinating, 6",1
UniProt,DI-05034,Cohen-Gibson syndrome,1
UniProt,DI-02672,Retinitis pigmentosa 33,1
UniProt,DI-04082,"Atrial fibrillation, familial, 15",1
UniProt,DI-02566,Glioma,1
UniProt,DI-05274,"Protoporphyria, erythropoietic, 2",1
UniProt,DI-00017,Aceruloplasminemia,1
UniProt,DI-01314,Camurati-Engelmann disease 1,1
UniProt,DI-05431,"Inflammatory bowel disease, immunodeficiency, and encephalopathy",1
UniProt,DI-01249,"Agammaglobulinemia 1, autosomal recessive",1
UniProt,DI-04904,3-methylglutaconic aciduria 8,1
UniProt,DI-02138,Parkinson disease 13,1
UniProt,DI-05233,"Deafness, aminoglycoside-induced",1
UniProt,DI-02634,"Liver failure, infantile, transient",1
UniProt,DI-00376,"Night blindness, congenital stationary, 2A",1
UniProt,DI-00328,"Cone-rod dystrophy, X-linked 3",1
UniProt,DI-01163,Aaland island eye disease,1
UniProt,DI-05337,"Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",1
UniProt,DI-02174,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1,1
UniProt,DI-00274,"Charcot-Marie-Tooth disease, axonal, type 2A1",1
UniProt,DI-02633,Neuroblastoma 1,1
UniProt,DI-02160,Pheochromocytoma,1
UniProt,DI-05104,Blepharocheilodontic syndrome 2,1
UniProt,DI-06966,"Fibromatosis, gingival, 6",1
UniProt,DI-03520,Amyotrophic lateral sclerosis 18,1
UniProt,DI-06839,"Intellectual developmental disorder, autosomal dominant 74",1
UniProt,DI-03378,"Brain small vessel disease 2A, autosomal dominant",1
UniProt,DI-07114,"Brain small vessel disease 2B, autosomal recessive",1
UniProt,DI-03406,Intracerebral hemorrhage,2
UniProt,DI-03825,"Cataract 30, multiple types",1
UniProt,DI-01634,"Fructose-1,6-bisphosphatase deficiency",1
UniProt,DI-01644,Galactosialidosis,1
UniProt,DI-07103,Brain small vessel disease 6 with leukoencephalopathy,1
UniProt,DI-01645,Diffuse gastric and lobular breast cancer syndrome,1
UniProt,DI-01526,Endometrial cancer,2
UniProt,DI-01655,Ovarian cancer,2
UniProt,DI-03803,"Breast cancer, lobular",1
UniProt,DI-05103,Blepharocheilodontic syndrome 1,1
UniProt,DI-04083,"Cortical dysplasia, complex, with other brain malformations 6",1
UniProt,DI-04628,"Skin creases, congenital symmetric circumferential, 1",1
UniProt,DI-05321,Keratolytic winter erythema,1
UniProt,DI-01039,"Spastic paraplegia 13, autosomal dominant",1
UniProt,DI-00650,"Leukodystrophy, hypomyelinating, 4",1
UniProt,DI-00447,Elliptocytosis 3,1
UniProt,DI-02322,Spherocytosis 2,1
UniProt,DI-02802,"Immunodeficiency, common variable, 5",1
UniProt,DI-02218,Prolidase deficiency,1
UniProt,DI-03933,Spinocerebellar ataxia 26,1
UniProt,DI-00280,"Charcot-Marie-Tooth disease, axonal, type 2F",1
UniProt,DI-00401,"Neuronopathy, distal hereditary motor, autosomal dominant 3",1
UniProt,DI-00543,"Angioedema, hereditary, 1",1
UniProt,DI-00497,Familial porphyria cutanea tarda,1
UniProt,DI-00542,Hepatoerythropoietic porphyria,1
UniProt,DI-00818,"Ceroid lipofuscinosis, neuronal, 10",1
UniProt,DI-02231,Psoriasis 1,1
UniProt,DI-02175,Polycystic liver disease 1 with or without kidney cysts,1
UniProt,DI-06877,"Pulmonary hypertension, primary, 6",1
UniProt,DI-01897,Leukocyte adhesion deficiency 1,1
UniProt,DI-01340,Childhood cancer retinoblastoma,1
UniProt,DI-02612,Bladder cancer,1
UniProt,DI-02109,Osteogenic sarcoma,1
UniProt,DI-01370,Combined saposin deficiency,1
UniProt,DI-02744,Metachromatic leukodystrophy due to saposin B deficiency,1
UniProt,DI-01196,"Gaucher disease, atypical, due to saposin C deficiency",1
UniProt,DI-01197,"Krabbe disease, atypical, due to saposin A deficiency",1
UniProt,DI-06202,"Parkinson disease 24, autosomal dominant",1
UniProt,DI-06688,"Autoinflammatory disease, systemic, with vasculitis",1
UniProt,DI-02747,Insulin-like growth factor 1 resistance,1
UniProt,DI-03882,Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3,1
UniProt,DI-03881,Amyotrophic lateral sclerosis 20,1
UniProt,DI-06754,"Myopathy, distal, 3",1
UniProt,DI-02293,Complement component C1s deficiency,1
UniProt,DI-04849,"Ehlers-Danlos syndrome, periodontal type, 2",1
UniProt,DI-02648,Systemic lupus erythematosus,3
UniProt,DI-03321,Complement component 4B deficiency,1
UniProt,DI-01685,Greig cephalo-poly-syndactyly syndrome,1
UniProt,DI-02122,Pallister-Hall syndrome,1
UniProt,DI-02397,"Polydactyly, postaxial A1",1
UniProt,DI-03100,"Polydactyly, postaxial B",1
UniProt,DI-02401,"Polydactyly, preaxial 4",1
UniProt,DI-01382,Complement component 7 deficiency,1
UniProt,DI-00188,Bethlem myopathy 1A,1
UniProt,DI-01110,Ullrich congenital muscular dystrophy 1A,1
UniProt,DI-01027,Shprintzen-Goldberg craniosynostosis syndrome,1
UniProt,DI-02879,Stevens-Johnson syndrome,1
UniProt,DI-02696,Spondyloarthropathy 1,1
UniProt,DI-00016,Acatalasemia,1
UniProt,DI-03784,"Charcot-Marie-Tooth disease, demyelinating, type 4B3",1
UniProt,DI-01560,Immunodeficiency 116,1
UniProt,DI-01710,Hereditary angiopathy with nephropathy aneurysms and muscle cramps,1
UniProt,DI-02182,Brain small vessel disease 1 with or without ocular anomalies,1
UniProt,DI-04437,Tortuosity of retinal arteries,1
UniProt,DI-02284,Schizencephaly,1
UniProt,DI-05644,"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant",1
UniProt,DI-07148,Craniosynostosis-scoliosis syndrome,1
UniProt,DI-05641,"Hepatitis, fulminant viral",1
UniProt,DI-05704,"Anemia, congenital, non-spherocytic hemolytic, 10",1
UniProt,DI-02205,Lung cancer,2
UniProt,DI-04271,Neonatal nephrocutaneous inflammatory syndrome,1
UniProt,DI-02753,Phosphoglycerate kinase 1 deficiency,1
UniProt,DI-02700,Multiple myeloma,2
UniProt,DI-00405,"Neuronopathy, distal hereditary motor, autosomal recessive 4",1
UniProt,DI-03862,"Charcot-Marie-Tooth disease, recessive intermediate C",1
UniProt,DI-00112,Amyotrophic lateral sclerosis 8,1
UniProt,DI-01054,"Spinal muscular atrophy, proximal, adult, autosomal dominant",1
UniProt,DI-05697,Halperin-Birk syndrome,1
UniProt,DI-04226,"Glucocorticoid resistance, generalized",1
UniProt,DI-04934,"Epilepsy, early-onset, 1, vitamin B6-dependent",1
UniProt,DI-04367,Cerebrocostomandibular syndrome,1
UniProt,DI-05611,Immunodeficiency 63 with lymphoproliferation and autoimmunity,1
UniProt,DI-01964,Immunodeficiency 27A,1
UniProt,DI-04225,Immunodeficiency 27B,1
UniProt,DI-06982,Intellectual developmental disorder with polymicrogyria and seizures,1
UniProt,DI-00951,"Cholestasis, progressive familial intrahepatic, 3",1
UniProt,DI-03634,"Cholestasis of pregnancy, intrahepatic 3",1
UniProt,DI-01341,Gallbladder disease 1,1
UniProt,DI-05905,"Autoinflammation, immune dysregulation, and eosinophilia",1
UniProt,DI-06160,WHIM syndrome 2,1
UniProt,DI-06034,Oculomotor-abducens synkinesis,1
UniProt,DI-00652,Metachromatic leukodystrophy,1
UniProt,DI-00791,Multiple sulfatase deficiency,2
UniProt,DI-01829,Intervertebral disc disease,1
UniProt,DI-02636,Metaphyseal anadysplasia 2,1
UniProt,DI-00777,Mucopolysaccharidosis 3D,1
UniProt,DI-06465,"Immunodeficiency 106, susceptibility to viral infections",1
UniProt,DI-04499,Achromatopsia 7,1
UniProt,DI-02542,Osteogenesis imperfecta 9,1
UniProt,DI-05667,Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities,1
UniProt,DI-01329,"Hemolytic anemia, CD59-mediated, with or without polyneuropathy",1
UniProt,DI-06342,"Epidermolysis bullosa, junctional 5A, intermediate",1
UniProt,DI-00458,"Epidermolysis bullosa, junctional 5B, with pyloric atresia",1
UniProt,DI-06133,"Deafness, cataract, impaired intellectual development, and polyneuropathy",1
UniProt,DI-07161,Ebstein-Bezieau neurodevelopmental syndrome,1
UniProt,DI-02378,Transcobalamin II deficiency,1
UniProt,DI-00977,Retinitis pigmentosa 10,1
UniProt,DI-03048,Leber congenital amaurosis 11,1
UniProt,DI-04635,"Autoinflammatory syndrome, familial, Behcet-like 1",1
UniProt,DI-06679,"Osteopetrosis, autosomal recessive 9",1
UniProt,DI-06008,"AMED syndrome, digenic",1
UniProt,DI-01796,Hypophosphatasia,1
UniProt,DI-03098,"Hypophosphatasia, childhood",1
UniProt,DI-03099,"Hypophosphatasia, infantile",1
UniProt,DI-04441,Lactate dehydrogenase B deficiency,1
UniProt,DI-01102,Thrombophilia due to thrombomodulin defect,1
UniProt,DI-02601,"Hemolytic uremic syndrome, atypical, 6",1
UniProt,DI-03467,Auriculocondylar syndrome 1,1
UniProt,DI-03352,"Pregnancy loss, recurrent, 3",1
UniProt,DI-03193,Heme oxygenase 1 deficiency,1
UniProt,DI-01308,Complement component 4A deficiency,1
UniProt,DI-00513,Glutaric aciduria 2A,1
UniProt,DI-01573,"Hemophagocytic lymphohistiocytosis, familial, 2",1
UniProt,DI-07077,Fetomaternal alloimmune thrombocytopenia 1,1
UniProt,DI-06076,Glanzmann thrombasthenia 2,1
UniProt,DI-06077,"Bleeding disorder, platelet-type, 24",1
UniProt,DI-02374,"Multicentric osteolysis, nodulosis, and arthropathy",1
UniProt,DI-06464,"Immunodeficiency 105, severe combined",1
UniProt,DI-01956,Acyl-CoA dehydrogenase medium-chain deficiency,1
UniProt,DI-06834,Bethlem myopathy 1C,1
UniProt,DI-06836,Ullrich congenital muscular dystrophy 1C,1
UniProt,DI-04449,Dystonia 27,1
UniProt,DI-00101,"Amyloidosis, hereditary systemic 4, Finnish type",1
UniProt,DI-04079,Immunodeficiency 22,1
UniProt,DI-03392,"Leukoencephalopathy, hereditary diffuse, with spheroids 1",1
UniProt,DI-05595,"Brain abnormalities, neurodegeneration, and dysosteosclerosis",1
UniProt,DI-01638,Fumarase deficiency,1
UniProt,DI-02003,Hereditary leiomyomatosis and renal cell cancer,1
UniProt,DI-01732,Renal cell carcinoma papillary,1
UniProt,DI-04599,"Deafness, autosomal recessive, 97",1
UniProt,DI-04712,Osteofibrous dysplasia,1
UniProt,DI-06491,"Arthrogryposis, distal, 11",1
UniProt,DI-01537,Esophageal cancer,1
UniProt,DI-01904,Li-Fraumeni syndrome,1
UniProt,DI-01696,Squamous cell carcinoma of the head and neck,1
UniProt,DI-01346,Papilloma of choroid plexus,1
UniProt,DI-02740,Adrenocortical carcinoma,1
UniProt,DI-03503,Basal cell carcinoma 7,1
UniProt,DI-05371,Bone marrow failure syndrome 5,1
UniProt,DI-06355,"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6",1
UniProt,DI-04720,"Trichothiodystrophy 6, non-photosensitive",1
UniProt,DI-01380,"Mitochondrial complex II deficiency, nuclear type 1",1
UniProt,DI-01886,Leigh syndrome,1
UniProt,DI-02945,"Cardiomyopathy, dilated, 1GG",1
UniProt,DI-03195,Pheochromocytoma/paraganglioma syndrome 5,1
UniProt,DI-06073,Neurodegeneration with ataxia and late-onset optic atrophy,1
UniProt,DI-01022,Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative,1
UniProt,DI-02437,X-linked combined immunodeficiency,1
UniProt,DI-05985,"Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",1
UniProt,DI-00699,Marfan syndrome,1
UniProt,DI-01839,"Ectopia lentis 1, isolated, autosomal dominant",1
UniProt,DI-01142,Weill-Marchesani syndrome 2,1
UniProt,DI-01941,Overlap connective tissue disease,1
UniProt,DI-02823,Stiff skin syndrome,1
UniProt,DI-03224,Geleophysic dysplasia 2,1
UniProt,DI-03225,Acromicric dysplasia,1
UniProt,DI-04689,Marfanoid-progeroid-lipodystrophy syndrome,1
UniProt,DI-03611,Congenital disorder of glycosylation 1T,1
UniProt,DI-01821,Infantile striatonigral degeneration,1
UniProt,DI-02889,"Agammaglobulinemia 6, autosomal recessive",1
UniProt,DI-00425,Ectodermal dysplasia and immunodeficiency 2,1
UniProt,DI-07147,STAD syndrome,1
UniProt,DI-04359,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,1
UniProt,DI-06296,Marbach-Schaaf neurodevelopmental syndrome,1
UniProt,DI-03766,Welander distal myopathy,1
UniProt,DI-06002,"Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia",1
UniProt,DI-00065,AICA-ribosuria due to ATIC deficiency,1
UniProt,DI-00514,Glutaric aciduria 2B,1
UniProt,DI-05161,"Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",1
UniProt,DI-05286,Proteasome-associated autoinflammatory syndrome 3,1
UniProt,DI-02402,Frontotemporal dementia 2,1
UniProt,DI-03493,"Ceroid lipofuscinosis, neuronal, 11",1
UniProt,DI-04747,"Intellectual developmental disorder, autosomal dominant 43",1
UniProt,DI-06524,Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects,1
UniProt,DI-04917,Meester-Loeys syndrome,1
UniProt,DI-04786,"Spondyloepimetaphyseal dysplasia, X-linked",1
UniProt,DI-02051,Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis,1
UniProt,DI-05898,Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia,1
UniProt,DI-05899,Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia,1
UniProt,DI-01018,"Immunodeficiency 104, severe combined",1
UniProt,DI-02605,Multiple sclerosis 3,1
UniProt,DI-01716,"Telangiectasia, hereditary hemorrhagic, 1",1
UniProt,DI-01803,Hypotrichosis congenital with juvenile macular dystrophy,1
UniProt,DI-00433,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",1
UniProt,DI-01646,Gastrointestinal stromal tumor,1
UniProt,DI-05623,GIST-plus syndrome,1
UniProt,DI-01097,"Ehlers-Danlos syndrome, classic-like, 1",1
UniProt,DI-04199,Vesicoureteral reflux 8,1
UniProt,DI-02170,Platelet glycoprotein IV deficiency,1
UniProt,DI-02841,Coronary heart disease 7,1
UniProt,DI-02651,Systemic lupus erythematosus 9,1
UniProt,DI-03489,"Immunodeficiency, common variable, 7",1
UniProt,DI-02611,Angiomatoid fibrous histiocytoma,2
UniProt,DI-01675,Glutathionuria,1
UniProt,DI-04553,"Immunodeficiency, common variable, 12, with autoimmunity",1
UniProt,DI-05998,Cardioacrofacial dysplasia 2,1
UniProt,DI-06130,Megacystis-microcolon-intestinal hypoperistalsis syndrome 4,1
UniProt,DI-00225,"Cardiomyopathy, dilated, 1W",1
UniProt,DI-02679,"Cardiomyopathy, familial hypertrophic, 15",1
UniProt,DI-03892,Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2,1
UniProt,DI-06737,Oculopharyngeal muscular dystrophy 2,1
UniProt,DI-04085,"Congenital heart defects, multiple types, 4",1
UniProt,DI-05853,"46,XX sex reversal 5",1
UniProt,DI-02987,Leukoencephalopathy with dystonia and motor neuropathy,1
UniProt,DI-04860,ZTTK syndrome,1
UniProt,DI-02597,"Hemolytic uremic syndrome, atypical, 2",1
UniProt,DI-05173,MEHMO syndrome,1
UniProt,DI-03718,"Advanced sleep phase syndrome, familial, 2",1
UniProt,DI-01321,Carnitine palmitoyltransferase 1A deficiency,1
UniProt,DI-00810,"Ceroid lipofuscinosis, neuronal, 1",1
UniProt,DI-01887,"Mitochondrial complex IV deficiency, nuclear type 5",1
UniProt,DI-00964,Pycnodysostosis,1
UniProt,DI-06594,Congenital disorder of glycosylation 2Z,1
UniProt,DI-03927,"Intellectual developmental disorder, autosomal dominant 21",1
UniProt,DI-03989,"Klippel-Feil syndrome 2, autosomal recessive",1
UniProt,DI-01687,Griscelli syndrome 2,1
UniProt,DI-03561,"Methylmalonic aciduria and homocystinuria, cblX type",1
UniProt,DI-03710,Combined D-2- and L-2-hydroxyglutaric aciduria,1
UniProt,DI-05393,"Myasthenic syndrome, congenital, 23, presynaptic",1
UniProt,DI-02609,Myeloproliferative disorder chronic with eosinophilia,1
UniProt,DI-01171,"Leukemia, acute myelogenous",4
UniProt,DI-04335,Thrombocytopenia 5,1
UniProt,DI-06771,"Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections",1
UniProt,DI-04528,"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities",1
UniProt,DI-06318,Gastrointestinal defects and immunodeficiency syndrome 2,1
UniProt,DI-06273,"Spastic paraplegia 84, autosomal recessive",1
UniProt,DI-01263,Woolly hair autosomal recessive 1 with or without hypotrichosis,1
UniProt,DI-01913,Hypotrichosis 8,1
UniProt,DI-06382,Immunodeficiency 97 with autoinflammation,1
UniProt,DI-05699,Intellectual developmental disorder with impaired language and dysmorphic facies,1
UniProt,DI-04420,Houge-Janssens syndrome 2,1
UniProt,DI-00728,"Intellectual developmental disorder, X-linked 41",1
UniProt,DI-05496,Retinitis pigmentosa 85,1
UniProt,DI-06946,Foveal hypoplasia 3,1
UniProt,DI-05917,IFAP syndrome 2,1
UniProt,DI-05948,"Mucoepithelial dysplasia, hereditary",1
UniProt,DI-04063,Richieri-Costa-Pereira syndrome,1
UniProt,DI-03723,"Agammaglobulinemia 7, autosomal recessive",1
UniProt,DI-03868,SHORT syndrome,1
UniProt,DI-04215,Immunodeficiency 36 with lymphoproliferation,1
UniProt,DI-00916,Peroxisome biogenesis disorder complementation group 5,1
UniProt,DI-03583,Peroxisome biogenesis disorder 5A,1
UniProt,DI-03584,Peroxisome biogenesis disorder 5B,1
UniProt,DI-07003,Kyphomelic dysplasia,1
UniProt,DI-07002,"Spondyloepimetaphyseal dysplasia, Li-Shao-Li type",1
UniProt,DI-04769,"Short stature, developmental delay, and congenital heart defects",1
UniProt,DI-03875,Immunodeficiency 8 with lymphoproliferation,1
UniProt,DI-06507,Bone marrow failure and diabetes mellitus syndrome,1
UniProt,DI-01359,Colorectal cancer,3
UniProt,DI-02167,Pilomatrixoma,1
UniProt,DI-01958,Medulloblastoma,1
UniProt,DI-03213,"Mesothelioma, malignant",2
UniProt,DI-03652,Neurodevelopmental disorder with spastic diplegia and visual defects,1
UniProt,DI-05042,"Vitreoretinopathy, exudative 7",1
UniProt,DI-06001,Frontotemporal dementia and/or amyotrophic lateral sclerosis 5,1
UniProt,DI-01845,Isovaleric acidemia,1
UniProt,DI-02186,"Corneal dystrophy, posterior polymorphous, 3",1
UniProt,DI-02766,"Corneal dystrophy, Fuchs endothelial, 6",1
UniProt,DI-05485,Neurodevelopmental disorder with developmental delay and with or without motor or speech delay,1
UniProt,DI-00551,Lynch syndrome 2,1
UniProt,DI-01980,Mismatch repair cancer syndrome 1,1
UniProt,DI-02000,Muir-Torre syndrome,1
UniProt,DI-06348,"Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections",1
UniProt,DI-05628,"Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections",1
UniProt,DI-06347,Stuve-Wiedemann syndrome 2,1
UniProt,DI-06346,Immunodeficiency 94 with autoinflammation and dysmorphic facies,1
UniProt,DI-07019,"Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language",1
UniProt,DI-06413,"Spinocerebellar ataxia, autosomal recessive, 32",1
UniProt,DI-06421,"Corneal dystrophy, punctiform and polychromatic pre-Descemet",1
UniProt,DI-01951,Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,1
UniProt,DI-00845,"Deafness, autosomal dominant, 17",1
UniProt,DI-03009,Proteasome-associated autoinflammatory syndrome 1,1
UniProt,DI-01767,"Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections",1
UniProt,DI-04194,"Autoimmune disease, multisystem, infantile-onset, 1",1
UniProt,DI-05581,"Encephalopathy, acute, infection-induced, 9",1
UniProt,DI-03189,"Neuropathy, hereditary sensory, 1E",1
UniProt,DI-03793,"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant",1
UniProt,DI-05463,Visual impairment and progressive phthisis bulbi,1
UniProt,DI-03295,Hypermethioninemia due to adenosine kinase deficiency,1
UniProt,DI-04696,"Advanced sleep phase syndrome, familial, 3",1
UniProt,DI-06554,"Developmental delay, language impairment, and ocular abnormalities",1
UniProt,DI-05565,Popov-Chang syndrome,1
UniProt,DI-05733,Poirier-Bienvenu neurodevelopmental syndrome,1
UniProt,DI-00071,Alagille syndrome 1,1
UniProt,DI-02362,Tetralogy of Fallot,2
UniProt,DI-05252,"Deafness, congenital heart defects, and posterior embryotoxon",1
UniProt,DI-06245,"Charcot-Marie-Tooth disease, axonal, type 2HH",1
UniProt,DI-01985,Mitochondrial phosphate carrier deficiency,1
UniProt,DI-07121,Congenital myopathy 28 with rigid spine,1
UniProt,DI-04850,"Intellectual developmental disorder, X-linked, syndromic, Bain type",1
UniProt,DI-05750,"Neutropenia, severe congenital 8, autosomal dominant",1
UniProt,DI-02419,WHIM syndrome 1,1
UniProt,DI-01765,Immunodeficiency 43,1
UniProt,DI-06896,"Amyloidosis, hereditary systemic 6",1
UniProt,DI-04731,"Intellectual developmental disorder, autosomal dominant 42",1
UniProt,DI-00846,"Deafness, autosomal dominant, 20",1
UniProt,DI-03417,Baraitser-Winter syndrome 2,1
UniProt,DI-05385,Periventricular nodular heterotopia 8,1
UniProt,DI-04006,"Congenital disorder of glycosylation 1W, autosomal recessive",1
UniProt,DI-06319,"Congenital disorder of glycosylation 1W, autosomal dominant",1
UniProt,DI-04103,"Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy",1
UniProt,DI-04061,Spondylometaphyseal dysplasia with cone-rod dystrophy,1
UniProt,DI-06827,"Lipodystrophy, congenital generalized, 5",1
UniProt,DI-01172,"Encephalopathy, acute, infection-induced, 3",1
UniProt,DI-01471,D-bifunctional protein deficiency,1
UniProt,DI-03133,Perrault syndrome 1,1
UniProt,DI-02351,Symptomatic deficiency in lactate transport,1
UniProt,DI-01584,"Hyperinsulinemic hypoglycemia, familial, 7",1
UniProt,DI-04263,Monocarboxylate transporter 1 deficiency,1
UniProt,DI-03266,N-terminal acetyltransferase deficiency,1
UniProt,DI-04013,"Microphthalmia, syndromic, 1",1
UniProt,DI-05218,Neurodegeneration with brain iron accumulation 8,1
UniProt,DI-01186,Aortic valve disease 1,1
UniProt,DI-04227,Adams-Oliver syndrome 5,1
UniProt,DI-06906,MHC class II deficiency 3,1
UniProt,DI-06907,MHC class II deficiency 5,1
UniProt,DI-03603,"Neuromyotonia and axonal neuropathy, autosomal recessive",1
UniProt,DI-04825,Alazami-Yuan syndrome,1
UniProt,DI-05172,Amyotrophic lateral sclerosis 23,1
UniProt,DI-06329,Inclusion body myopathy and brain white matter abnormalities,1
UniProt,DI-02787,Maturity-onset diabetes of the young 11,1
UniProt,DI-03930,"Deafness, dystonia, and cerebral hypomyelination",1
UniProt,DI-00900,Papillon-Lefevre syndrome,1
UniProt,DI-00539,Haim-Munk syndrome,1
UniProt,DI-01853,"Periodontititis, aggressive, 1",1
UniProt,DI-03106,Immunodeficiency 31B,1
UniProt,DI-04224,Immunodeficiency 31A,1
UniProt,DI-03179,Immunodeficiency 31C,1
UniProt,DI-00718,"Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type",1
UniProt,DI-03579,Peroxisome biogenesis disorder 2A,1
UniProt,DI-00048,Peroxisome biogenesis disorder 2B,1
UniProt,DI-04602,Rhizomelic chondrodysplasia punctata 5,1
UniProt,DI-03490,"Immunodeficiency, common variable, 8, with autoimmunity",1
UniProt,DI-03751,Nephrotic syndrome 8,1
UniProt,DI-01189,Cerebral creatine deficiency syndrome 3,1
UniProt,DI-05857,Fanconi renotubular syndrome 1,1
UniProt,DI-00252,"Myopathy, centronuclear, 1",1
UniProt,DI-03854,Lethal congenital contracture syndrome 5,1
UniProt,DI-00264,"Charcot-Marie-Tooth disease, dominant intermediate B",1
UniProt,DI-03481,"Charcot-Marie-Tooth disease, axonal, type 2M",1
UniProt,DI-00670,Lissencephaly 1,1
UniProt,DI-01094,Subcortical band heterotopia,1
UniProt,DI-00769,Miller-Dieker lissencephaly syndrome,1
UniProt,DI-02625,Amyotrophic lateral sclerosis 21,1
UniProt,DI-02295,Immunodeficiency 48,1
UniProt,DI-04749,"Autoimmune disease, multisystem, infantile-onset, 2",1
UniProt,DI-01748,"Hirschsprung disease, cardiac defects, and autonomic dysfunction",1
UniProt,DI-02846,Tuberous sclerosis 2,1
UniProt,DI-01919,Lymphangioleiomyomatosis,2
UniProt,DI-04980,Focal cortical dysplasia 2,2
UniProt,DI-06172,Retinal dystrophy and microvillus inclusion disease,1
UniProt,DI-06171,"Diarrhea 12, with microvillus atrophy",1
UniProt,DI-06354,Craniofacial microsomia 1,1
UniProt,DI-03810,Immunodeficiency 32A,1
UniProt,DI-03811,Immunodeficiency 32B,1
UniProt,DI-06986,Muggenthaler-Chowdhury-Chioza syndrome,1
UniProt,DI-04190,"Deafness, autosomal recessive, 102",1
UniProt,DI-02465,"46,XY sex reversal 3",1
UniProt,DI-05002,"46,XX sex reversal 4",1
UniProt,DI-05003,"Adrenal insufficiency, NR5A1-related",1
UniProt,DI-02517,Premature ovarian failure 7,1
UniProt,DI-03124,Spermatogenic failure 8,1
UniProt,DI-04688,"Immunodeficiency, common variable, 13",1
UniProt,DI-00254,"Myopathy, centronuclear, X-linked",1
UniProt,DI-00695,"Lymphoproliferative syndrome, X-linked, 2",1
UniProt,DI-00038,Adenosine monophosphate deaminase deficiency erythrocyte type,1
UniProt,DI-02142,Partial acquired lipodystrophy,1
UniProt,DI-04510,"Epilepsy, progressive myoclonic 9",1
UniProt,DI-06045,"Microcephaly 27, primary, autosomal dominant",1
UniProt,DI-00412,Dystonia-deafness syndrome 1,1
UniProt,DI-03416,Baraitser-Winter syndrome 1,1
UniProt,DI-06744,"Thrombocytopenia 8, with dysmorphic features and developmental delay",1
UniProt,DI-06747,Becker nevus syndrome,1
UniProt,DI-06743,"Congenital smooth muscle hamartoma, with or without hemihypertrophy",1
UniProt,DI-05011,Noonan syndrome-like disorder with loose anagen hair 2,1
UniProt,DI-00130,"Aortic aneurysm, familial thoracic 6",1
UniProt,DI-03141,Moyamoya disease 5,1
UniProt,DI-03109,Smooth muscle dysfunction syndrome,1
UniProt,DI-00053,"Intellectual developmental disorder, X-linked, syndromic 28",1
UniProt,DI-00268,"Charcot-Marie-Tooth disease, demyelinating, type 1A",1
UniProt,DI-00387,Dejerine-Sottas syndrome,1
UniProt,DI-00546,Hereditary neuropathy with liability to pressure palsies,1
UniProt,DI-00272,"Charcot-Marie-Tooth disease, demyelinating, type 1E",1
UniProt,DI-01824,Inflammatory demyelinating polyneuropathy,1
UniProt,DI-00682,Long QT syndrome 4,1
UniProt,DI-01476,Dentatorubral-pallidoluysian atrophy,1
UniProt,DI-05610,"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies",1
UniProt,DI-05728,"Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies",1
UniProt,DI-04780,"Tubulointerstitial kidney disease, autosomal dominant 5",1
UniProt,DI-06822,"Immunodeficiency, common variable, 15",1
UniProt,DI-06823,"Neutropenia, severe congenital, 11, autosomal dominant",1
UniProt,DI-05507,Houge-Janssens syndrome 3,1
UniProt,DI-01698,Heinz body anemias,1
UniProt,DI-01181,Alpha-thalassemia,1
UniProt,DI-03202,Hemoglobin H disease,1
UniProt,DI-03921,Interstitial lung and liver disease,1
UniProt,DI-04362,"Charcot-Marie-Tooth disease, axonal, type 2U",1
UniProt,DI-06300,"Trichothiodystrophy 9, non-photosensitive",1
UniProt,DI-06655,"Spastic paraplegia 70, autosomal recessive",1
UniProt,DI-05186,"Intellectual developmental disorder, autosomal dominant 56",1
UniProt,DI-01510,Dyschromatosis symmetrica hereditaria,1
UniProt,DI-03668,Aicardi-Goutieres syndrome 6,1
UniProt,DI-02610,Ewing sarcoma,2
UniProt,DI-06814,Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies,1
UniProt,DI-07169,Yu-Kury neurodevelopmental syndrome,1
UniProt,DI-04984,"Bleeding disorder, platelet-type, 21",1
UniProt,DI-02261,Reticular dysgenesis,1
UniProt,DI-04857,Sifrim-Hitz-Weiss syndrome,1
UniProt,DI-05234,"Microcephaly 21, primary, autosomal recessive",1
UniProt,DI-04257,"Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities",1
UniProt,DI-02719,Achondrogenesis 1A,1
UniProt,DI-05493,Odontochondrodysplasia 1,1
UniProt,DI-03062,"Aortic aneurysm, familial thoracic 7",1
UniProt,DI-05709,Megacystis-microcolon-intestinal hypoperistalsis syndrome,1
UniProt,DI-00654,Leukoencephalopathy with vanishing white matter 1,1
UniProt,DI-07001,Immunodeficiency 131,1
UniProt,DI-04889,Keratosis pilaris atrophicans,1
UniProt,DI-06830,Developmental dysplasia of the hip 3,1
UniProt,DI-02171,Platelet-activating factor acetylhydrolase deficiency,1
UniProt,DI-00356,"Lipodystrophy, congenital generalized, 3",1
UniProt,DI-03836,"Pulmonary hypertension, primary, 3",1
UniProt,DI-04108,"Lipodystrophy, familial partial, 7",1
UniProt,DI-00072,Alagille syndrome 2,1
UniProt,DI-02985,Hajdu-Cheney syndrome,1
UniProt,DI-01662,"Fibromatosis, gingival, 1",1
UniProt,DI-02074,Noonan syndrome 4,1
UniProt,DI-06140,Immunodeficiency 81,1
UniProt,DI-03543,Immunodeficiency 132A,1
UniProt,DI-07000,Immunodeficiency 132B,1
UniProt,DI-05435,Vertebral anomalies and variable endocrine and T-cell dysfunction,1
UniProt,DI-00139,Ataxia telangiectasia,1
UniProt,DI-01500,Dominantly inherited venous malformations,1
UniProt,DI-04901,"Glaucoma 3, primary congenital, E",1
UniProt,DI-01847,"Metaphyseal chondrodysplasia, Jansen type",1
UniProt,DI-01343,Chondrodysplasia Blomstrand type,1
UniProt,DI-01518,Eiken syndrome,1
UniProt,DI-02202,Primary failure of tooth eruption,1
UniProt,DI-02530,"Cardiomyopathy, dilated, 1CC",1
UniProt,DI-07061,"Cardiomyopathy, dilated, 2M",1
UniProt,DI-03041,"Cardiomyopathy, familial hypertrophic, 20",1
UniProt,DI-01488,Dihydropyrimidine dehydrogenase deficiency,1
UniProt,DI-05583,"Deafness, autosomal recessive, 114",1
UniProt,DI-06308,Brunet-Wagner neurodevelopmental syndrome,1
UniProt,DI-04539,Paget disease of bone 3,1
UniProt,DI-04471,Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,1
UniProt,DI-04862,"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",1
UniProt,DI-04886,"Myopathy, distal, with rimmed vacuoles",1
UniProt,DI-06735,Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities,1
UniProt,DI-05746,"Keratitis-ichthyosis-deafness syndrome, autosomal recessive",1
UniProt,DI-01504,Doyne honeycomb retinal dystrophy,1
UniProt,DI-06874,"Cutis laxa, autosomal recessive, 1D",1
UniProt,DI-06858,"Glaucoma 1, open angle, H",1
UniProt,DI-06798,"Cardiomyopathy, dilated, 2J",1
UniProt,DI-06599,"Joint contractures, osteochondromas, and B-cell lymphoma",1
UniProt,DI-02023,Dystrophia myotonica 1,2
UniProt,DI-01625,Fragile X syndrome,1
UniProt,DI-01626,Fragile X tremor/ataxia syndrome,1
UniProt,DI-02518,Premature ovarian failure 1,1
UniProt,DI-03522,Adams-Oliver syndrome 3,1
UniProt,DI-03460,"Acrodysostosis 2, with or without hormone resistance",1
UniProt,DI-00205,Brugada syndrome 4,1
UniProt,DI-03265,Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,1
UniProt,DI-03653,Alazami syndrome,1
UniProt,DI-04276,Hydroxykynureninuria,1
UniProt,DI-05095,"Vertebral, cardiac, renal, and limb defects syndrome 2",1
UniProt,DI-06712,"Autoinflammatory disease, multisystem, with immune dysregulation, X-linked",1
UniProt,DI-06759,"Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction",1
UniProt,DI-01534,Galactosemia 3,1
UniProt,DI-06880,"Thrombocytopenia 13, syndromic",1
UniProt,DI-03076,"Leukemia, acute lymphoblastic",2
UniProt,DI-03414,Mandibulofacial dysostosis with microcephaly,1
UniProt,DI-06575,Hijazi-Reis syndrome,1
UniProt,DI-04618,"Intellectual developmental disorder, X-linked, syndromic 34",1
UniProt,DI-01909,Lipoid proteinosis,1
UniProt,DI-00286,"Charcot-Marie-Tooth disease, demyelinating, type 4B1",1
UniProt,DI-02042,Neural tube defects,1
UniProt,DI-01145,Werner syndrome,1
UniProt,DI-06807,"Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline",1
UniProt,DI-06881,"Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder",1
UniProt,DI-06544,"Charcot-Marie-Tooth disease, demyelinating, type 1J",1
UniProt,DI-07057,Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy,1
UniProt,DI-01580,"Hyperinsulinemic hypoglycemia, familial, 2",1
UniProt,DI-05823,"Diabetes mellitus, permanent neonatal, 2",1
UniProt,DI-02382,"Diabetes mellitus, transient neonatal, 3",1
UniProt,DI-04404,Maturity-onset diabetes of the young 13,1
UniProt,DI-04629,"Skin creases, congenital symmetric circumferential, 2",1
UniProt,DI-04773,"Macrocephaly, dysmorphic facies, and psychomotor retardation",1
UniProt,DI-00515,Glutaric aciduria 2C,1
UniProt,DI-02674,"Inflammatory bowel disease 28, autosomal recessive",1
UniProt,DI-06801,"Atrial fibrillation, familial, 8",1
UniProt,DI-06803,Spinocerebellar ataxia 4,1
UniProt,DI-07149,"Epilepsy, idiopathic generalized 20",1
UniProt,DI-01326,Caspase-8 deficiency,1
UniProt,DI-04971,Congenital disorder of glycosylation 2Q,1
UniProt,DI-01169,"Epilepsy, progressive myoclonic 4, with or without renal failure",1
UniProt,DI-06849,"Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",1
UniProt,DI-01309,"Intellectual developmental disorder, X-linked, syndromic, Cabezas type",1
UniProt,DI-06734,"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",1
UniProt,DI-01532,"Epidermolysis bullosa simplex 5C, with pyloric atresia",1
UniProt,DI-00468,"Epidermolysis bullosa simplex 5B, with muscular dystrophy",1
UniProt,DI-00464,"Epidermolysis bullosa simplex 5A, Ogna type",1
UniProt,DI-03000,"Muscular dystrophy, limb-girdle, autosomal recessive 17",1
UniProt,DI-04492,"Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive",1
UniProt,DI-00923,Peutz-Jeghers syndrome,1
UniProt,DI-02749,Testicular germ cell tumor,1
UniProt,DI-03470,"Microcephaly 8, primary, autosomal recessive",1
UniProt,DI-04919,Developmental and epileptic encephalopathy 49,1
UniProt,DI-05799,Anauxetic dysplasia 3,1
UniProt,DI-05753,"Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",1
UniProt,DI-03268,KBG syndrome,1
UniProt,DI-04923,Anterior segment dysgenesis 6,1
UniProt,DI-00935,"Glaucoma 3, primary congenital, A",1
UniProt,DI-00937,"Glaucoma 1, open angle, A",1
UniProt,DI-05158,Coffin-Siris syndrome 6,1
UniProt,DI-03738,"Mitochondrial complex III deficiency, nuclear type 2",1
UniProt,DI-01725,Hereditary multiple exostoses 1,1
UniProt,DI-02741,Chondrosarcoma,1
UniProt,DI-07110,Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies,1
UniProt,DI-04240,"2,4-dienoyl-CoA reductase deficiency",1
UniProt,DI-04826,Orofaciodigital syndrome 15,1
UniProt,DI-06194,Joubert syndrome 38,1
UniProt,DI-06195,Short-rib thoracic dysplasia 21 without polydactyly,1
UniProt,DI-05854,Developmental and epileptic encephalopathy 86,1
UniProt,DI-01826,Type 1 diabetes mellitus,1
UniProt,DI-01801,Hypotonia-cystinuria syndrome,1
UniProt,DI-04963,"Myasthenic syndrome, congenital, 22",1
UniProt,DI-04507,"Mitochondrial complex IV deficiency, nuclear type 13",1
UniProt,DI-01986,Mitochondrial phosphoenolpyruvate carboxykinase deficiency,1
UniProt,DI-02556,Focal segmental glomerulosclerosis 5,1
UniProt,DI-03340,"Charcot-Marie-Tooth disease, dominant intermediate E",1
UniProt,DI-01714,Hemochromatosis 1,1
UniProt,DI-06593,Congenital disorder of glycosylation 2Y,1
UniProt,DI-02254,Renal cell carcinoma,2
UniProt,DI-03556,"Microcephaly, short stature, and polymicrogyria with or without seizures",1
UniProt,DI-06293,"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss",1
UniProt,DI-01589,Hyperparathyroidism 1,1
UniProt,DI-01780,Hyperparathyroidism 2 with jaw tumors,1
UniProt,DI-02129,Parathyroid carcinoma,1
UniProt,DI-00980,Retinitis pigmentosa 13,1
UniProt,DI-02180,Pontocerebellar hypoplasia 6,1
UniProt,DI-06290,Zaki syndrome,1
UniProt,DI-06305,"Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",1
UniProt,DI-05850,Silver-Russell syndrome 4,1
UniProt,DI-04785,Pyle disease,1
UniProt,DI-00379,Cornelia de Lange syndrome 1,1
UniProt,DI-03181,Gray platelet syndrome,1
UniProt,DI-03389,Floating-Harbor syndrome,1
UniProt,DI-06262,"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities",1
UniProt,DI-04125,Xia-Gibbs syndrome,1
UniProt,DI-02658,Inflammatory bowel disease 10,1
UniProt,DI-00776,Mucopolysaccharidosis 3C,1
UniProt,DI-04519,Retinitis pigmentosa 73,1
UniProt,DI-05046,Birk-Landau-Perez syndrome,1
UniProt,DI-04505,Cone-rod dystrophy 21,1
UniProt,DI-06897,Premature ovarian failure 24,1
UniProt,DI-04823,"Intellectual developmental disorder, autosomal recessive 56",1
UniProt,DI-04128,Pontocerebellar hypoplasia 2E,1
UniProt,DI-02137,Parkinson disease 11,1
UniProt,DI-00761,"Microphthalmia, syndromic, 2",1
UniProt,DI-02583,Short-rib thoracic dysplasia 3 with or without polydactyly,1
UniProt,DI-05142,Kleefstra syndrome 2,1
UniProt,DI-05497,Coffin-Siris syndrome 8,1
UniProt,DI-04781,Ataxia-pancytopenia syndrome,1
UniProt,DI-05981,Monosomy 7 myelodysplasia and leukemia syndrome 1,1
UniProt,DI-06383,Spinocerebellar ataxia 49,1
UniProt,DI-03289,"Myopia, high, with cataract and vitreoretinal degeneration",1
UniProt,DI-04421,White-Sutton syndrome,1
UniProt,DI-05140,"Immunodeficiency, common variable, 14",1
UniProt,DI-01898,Leukocyte adhesion deficiency 3,1
UniProt,DI-04668,"Parkinson disease 23, autosomal recessive, early onset",1
UniProt,DI-03156,Temtamy preaxial brachydactyly syndrome,1
UniProt,DI-00406,Dyggve-Melchior-Clausen syndrome,1
UniProt,DI-01034,Smith-McCort dysplasia 1,1
UniProt,DI-03635,Carpenter syndrome 2,1
UniProt,DI-03051,Nephronophthisis 12,1
UniProt,DI-03067,Short-rib thoracic dysplasia 4 with or without polydactyly,1
UniProt,DI-03108,Joubert syndrome 11,1
UniProt,DI-05067,Nephrotic syndrome 15,1
UniProt,DI-05230,Shwachman-Diamond syndrome 2,1
UniProt,DI-05311,Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities,1
UniProt,DI-00836,"Deafness, autosomal dominant, 4A",1
UniProt,DI-03320,"Peripheral neuropathy, myopathy, hoarseness, and hearing loss",1
UniProt,DI-04662,Paget disease of bone 6,1
UniProt,DI-02942,Factor V and factor VIII combined deficiency 2,1
UniProt,DI-05927,Spermatogenic failure 44,1
UniProt,DI-03607,"Spastic paraplegia 53, autosomal recessive",1
UniProt,DI-04007,Congenital disorder of glycosylation 1X,1
UniProt,DI-06582,Atelis syndrome 1,1
UniProt,DI-01047,"Spastic paraplegia 20, autosomal recessive",1
UniProt,DI-01298,Branchiootorenal syndrome 2,1
UniProt,DI-03405,"Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures",1
UniProt,DI-02432,"Autism, X-linked 2",1
UniProt,DI-01304,Bohring-Opitz syndrome,1
UniProt,DI-03291,Myelodysplastic syndrome,1
UniProt,DI-02872,Urban-Rifkin-Davis syndrome,1
UniProt,DI-01509,Duchenne muscular dystrophy,1
UniProt,DI-02661,"Prostate cancer, hereditary, 12",1
UniProt,DI-03814,"Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant",1
UniProt,DI-05467,"Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant",1
UniProt,DI-05620,O'Donnell-Luria-Rodan syndrome,1
UniProt,DI-06010,Neurodevelopmental disorder with or without early-onset generalized epilepsy,1
UniProt,DI-01063,"Coenzyme Q10 deficiency, primary, 4",1
UniProt,DI-05314,Spermatogenic failure 31,1
UniProt,DI-06841,Yuksel-Vogel-Bauer syndrome,1
UniProt,DI-02809,"Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections",1
UniProt,DI-03185,"Intellectual developmental disorder, autosomal dominant 2",1
UniProt,DI-05297,"Epilepsy, familial adult myoclonic, 6",1
UniProt,DI-01062,"Spinocerebellar ataxia, autosomal recessive, 8",1
UniProt,DI-02519,"Emery-Dreifuss muscular dystrophy 4, autosomal dominant",1
UniProt,DI-05605,"Arthrogryposis multiplex congenita 3, myogenic type",1
UniProt,DI-03832,Alzheimer disease,1
UniProt,DI-00336,Congenital disorder of glycosylation 1D,1
UniProt,DI-05587,Immunodeficiency 62,1
UniProt,DI-03311,"Ohdo syndrome, SBBYS variant",1
UniProt,DI-03437,Genitopatellar syndrome,1
UniProt,DI-01726,Hereditary multiple exostoses 2,1
UniProt,DI-04595,"Seizures, scoliosis, and macrocephaly/microcephaly syndrome",1
UniProt,DI-05546,Immunodeficiency 61,1
UniProt,DI-06681,"Charcot-Marie-Tooth disease, axonal, type 2GG",1
UniProt,DI-03304,Tumor predisposition syndrome 1,1
UniProt,DI-06494,"Melanoma, uveal, 2",1
UniProt,DI-06353,Kury-Isidor syndrome,1
UniProt,DI-02730,Rubinstein-Taybi syndrome 1,1
UniProt,DI-05487,Menke-Hennekam syndrome 1,1
UniProt,DI-02095,Opitz-Kaveggia syndrome,1
UniProt,DI-01917,"Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type",1
UniProt,DI-03741,"Ohdo syndrome, X-linked",1
UniProt,DI-06282,Hardikar syndrome,1
UniProt,DI-05100,"Encephalopathy, progressive, early-onset, with brain atrophy and spasticity",1
UniProt,DI-03650,Gand syndrome,1
UniProt,DI-05135,Joubert syndrome 33,1
UniProt,DI-03724,Ataxia-oculomotor apraxia 3,1
UniProt,DI-01424,Conotruncal heart malformations,1
UniProt,DI-03370,Atrial septal defect 9,1
UniProt,DI-03369,Atrioventricular septal defect 5,1
UniProt,DI-03371,Pancreatic agenesis and congenital heart defects,1
UniProt,DI-02299,"Pituitary hormone deficiency, combined, 4",1
UniProt,DI-05815,Immunodeficiency 66,1
UniProt,DI-02134,Parkinson disease,1
UniProt,DI-01106,Tuberous sclerosis 1,1
UniProt,DI-03525,"Neuropathy, hereditary motor and sensory, Okinawa type",1
UniProt,DI-04029,"Spastic paraplegia 57, autosomal recessive",1
UniProt,DI-05275,Coffin-Siris syndrome 7,1
UniProt,DI-00529,Glycogen storage disease 9B,1
UniProt,DI-04701,"Robinow syndrome, autosomal dominant 3",1
UniProt,DI-04120,"Intellectual developmental disorder, autosomal dominant 26",1
UniProt,DI-05397,Retinitis pigmentosa 84,1
UniProt,DI-00557,Hermansky-Pudlak syndrome 1,1
UniProt,DI-04248,Meningioma,1
UniProt,DI-04718,Coffin-Siris syndrome 5,1
UniProt,DI-06509,"Microcephaly 29, primary, autosomal recessive",1
UniProt,DI-00249,"Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy",1
UniProt,DI-06122,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,1
UniProt,DI-01045,"Spastic paraplegia 11, autosomal recessive",1
UniProt,DI-04565,"Amyotrophic lateral sclerosis 5, juvenile",1
UniProt,DI-04588,"Charcot-Marie-Tooth disease, axonal, type 2X",1
UniProt,DI-04603,"Spinocerebellar ataxia, autosomal recessive, 21",1
UniProt,DI-01399,Congenital disorder of glycosylation 2H,1
UniProt,DI-03711,Kenny-Caffey syndrome 2,1
UniProt,DI-03712,Gracile bone dysplasia,1
UniProt,DI-00055,"Macular degeneration, age-related, 1",1
UniProt,DI-05711,"Mitochondrial complex V deficiency, nuclear type 6",1
UniProt,DI-00715,"Intellectual developmental disorder, autosomal recessive 2",1
UniProt,DI-05061,"Intellectual developmental disorder, autosomal dominant 45",1
UniProt,DI-01364,Combined oxidative phosphorylation deficiency 1,1
UniProt,DI-03242,Parkinson disease 17,1
UniProt,DI-06099,Radio-Tartaglia syndrome,1
UniProt,DI-06795,Immunodeficiency 115 with autoinflammation,1
UniProt,DI-06780,Congenital disorder of glycosylation 2BB,1
UniProt,DI-02318,Sotos syndrome,1
UniProt,DI-00179,Beckwith-Wiedemann syndrome,1
UniProt,DI-05359,"Pituitary hormone deficiency, combined or isolated, 7",1
UniProt,DI-04626,Congenital disorder of glycosylation 2O,1
UniProt,DI-00713,"Intellectual developmental disorder, autosomal dominant 5",1
UniProt,DI-04928,Optic atrophy 11,1
UniProt,DI-06024,"Multiple congenital anomalies-neurodevelopmental syndrome, X-linked",1
UniProt,DI-05723,Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures,1
UniProt,DI-05675,Weiss-Kruszka syndrome,1
UniProt,DI-01344,Choreoacanthocytosis,1
UniProt,DI-03484,Seckel syndrome 6,1
UniProt,DI-02855,"Microcephaly, seizures, and developmental delay",1
UniProt,DI-04356,Ataxia-oculomotor apraxia 4,1
UniProt,DI-02843,Restless legs syndrome 6,1
UniProt,DI-03945,Phelan-McDermid syndrome,1
UniProt,DI-03101,Schizophrenia 15,1
UniProt,DI-05572,"Spastic ataxia 9, autosomal recessive",1
UniProt,DI-06060,"Short stature, oligodontia, dysmorphic facies, and motor delay",1
UniProt,DI-05070,Multiple mitochondrial dysfunctions syndrome 5,1
UniProt,DI-04736,Pierpont syndrome,1
UniProt,DI-04716,"Intellectual developmental disorder, autosomal dominant 41",1
UniProt,DI-00482,"Erythrocytosis, familial, 4",1
UniProt,DI-05836,"Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome",1
UniProt,DI-06884,Neurodevelopmental disorder with progressive movement abnormalities,1
UniProt,DI-07154,Meier-Gorlin syndrome 9,1
UniProt,DI-05989,Cardiofacioneurodevelopmental syndrome,1
UniProt,DI-05384,"Diarrhea 10, protein-losing enteropathy type",1
UniProt,DI-04157,Polyglucosan body myopathy 1 with or without immunodeficiency,1
UniProt,DI-05539,Immunodeficiency 60 and autoimmunity,1
UniProt,DI-06848,Orofaciodigital syndrome 20,1
UniProt,DI-03440,Kohlschuetter-Toenz syndrome,1
UniProt,DI-04620,DeSanto-Shinawi syndrome,1
UniProt,DI-06377,"Autoinflammatory syndrome, familial, X-linked, Behcet-like 2",1
UniProt,DI-00001,HSD10 mitochondrial disease,1
UniProt,DI-05510,Cone-rod dystrophy and hearing loss 2,1
UniProt,DI-04661,Luscan-Lumish syndrome,1
UniProt,DI-06565,"Intellectual developmental disorder, autosomal dominant 70",1
UniProt,DI-06563,Rabin-Pappas syndrome,1
UniProt,DI-05446,Epidermodysplasia verruciformis 3,1
UniProt,DI-05788,Intellectual developmental disorder with poor growth and with or without seizures or ataxia,1
UniProt,DI-03191,Cataract 18,1
UniProt,DI-01239,Parkinson disease 6,1
UniProt,DI-02736,Vitiligo-associated multiple autoimmune disease 1,1
UniProt,DI-03762,"Palmoplantar carcinoma, multiple self-healing",1
UniProt,DI-04967,Autoinflammation with arthritis and dyskeratosis,1
UniProt,DI-05784,"Respiratory papillomatosis, juvenile recurrent, congenital",1
UniProt,DI-00481,"Erythrocytosis, familial, 3",1
UniProt,DI-00320,Cone-rod dystrophy 5,1
UniProt,DI-02971,Gastric cancer,1
UniProt,DI-02663,Prostate cancer,1
UniProt,DI-04486,Ullrich congenital muscular dystrophy 2,1
UniProt,DI-04487,Bethlem myopathy 2,1
UniProt,DI-05266,Congenital disorder of glycosylation with defective fucosylation 1,1
UniProt,DI-04659,"Spastic paraplegia, optic atrophy, and neuropathy",1
UniProt,DI-06937,Kariminejad neurodevelopmental syndrome,1
UniProt,DI-06938,"Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities",1
UniProt,DI-06091,Dystonia 30,1
UniProt,DI-05846,Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity,1
UniProt,DI-03606,Developmental and epileptic encephalopathy 36,1
UniProt,DI-04812,Intellectual developmental disorder with persistence of fetal hemoglobin,1
UniProt,DI-01938,Marinesco-Sjoegren syndrome,1
UniProt,DI-02772,Congenital disorder of glycosylation 2J,1
UniProt,DI-05354,Saul-Wilson syndrome,1
UniProt,DI-03745,"Spastic paraplegia 46, autosomal recessive",1
UniProt,DI-01701,Hemochromatosis 4,1
UniProt,DI-01348,Kleefstra syndrome 1,1
UniProt,DI-03675,Intellectual developmental disorder with autism and macrocephaly,1
UniProt,DI-03229,Warburg micro syndrome 3,1
UniProt,DI-03037,"Cardiomyopathy, familial hypertrophic, 16",1
UniProt,DI-05808,Combined oxidative phosphorylation deficiency 40,1
UniProt,DI-06246,Immunodeficiency 87 and autoimmunity,1
UniProt,DI-06960,Karayol-Borroto-Haghshenas neurodevelopmental syndrome,1
UniProt,DI-02984,Intellectual developmental disorder with language impairment and with or without autistic features,1
UniProt,DI-04639,Leukodystrophy and acquired microcephaly with or without dystonia,1
UniProt,DI-04954,Grange syndrome,1
UniProt,DI-02207,"Microcephaly 6, primary, autosomal recessive",1
UniProt,DI-02948,Seckel syndrome 4,1
UniProt,DI-03254,"Intellectual developmental disorder, autosomal dominant 11",1
UniProt,DI-04734,Heart and brain malformation syndrome,1
UniProt,DI-06480,"Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies",1
UniProt,DI-00868,"Deafness, autosomal recessive, 28",1
UniProt,DI-01067,Spinocerebellar ataxia 2,1
UniProt,DI-02859,Amyotrophic lateral sclerosis 13,1
UniProt,DI-06151,Hypokalemic tubulopathy and deafness,1
UniProt,DI-01564,"Cylindromatosis, familial",1
UniProt,DI-02007,"Trichoepithelioma, multiple familial, 1",1
UniProt,DI-00201,Brooke-Spiegler syndrome,1
UniProt,DI-06000,Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,1
UniProt,DI-06701,"Ciliary dyskinesia, primary, 51",1
UniProt,DI-05889,"Immunodeficiency 74, COVID19-related, X-linked",1
UniProt,DI-06410,Systemic lupus erythematosus 17,1
UniProt,DI-06288,Immunodeficiency 91 and hyperinflammation,1
UniProt,DI-03058,Fanconi anemia complementation group F,1
UniProt,DI-03284,Neurodegeneration with brain iron accumulation 4,1
UniProt,DI-03971,"Spastic paraplegia 43, autosomal recessive",1
UniProt,DI-05224,Orofaciodigital syndrome 18,1
UniProt,DI-06851,Hyperferritinemia,1
UniProt,DI-03895,Infantile liver failure syndrome 1,1
UniProt,DI-04705,Immunodeficiency-centromeric instability-facial anomalies syndrome 4,1
UniProt,DI-01149,Wolcott-Rallison syndrome,1
UniProt,DI-05153,"Intellectual developmental disorder, autosomal dominant 52",1
UniProt,DI-05084,Pontocerebellar hypoplasia 11,1
UniProt,DI-02240,Pyruvate dehydrogenase phosphatase deficiency,1
UniProt,DI-06490,Lymphatic malformation 12,1
UniProt,DI-04654,"Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia",1
UniProt,DI-02278,Salla disease,1
UniProt,DI-01820,Infantile sialic acid storage disorder,1
UniProt,DI-03788,Gordon Holmes syndrome,1
UniProt,DI-06611,Lymphatic malformation 13,1
UniProt,DI-05735,"Aneurysm, intracranial berry, 12",1
UniProt,DI-02979,"Methylmalonic aciduria, transient, due to transcobalamin receptor defect",1
UniProt,DI-02060,Type 2 diabetes mellitus,1
UniProt,DI-07063,"Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities",1
UniProt,DI-01920,Lysinuric protein intolerance,1
UniProt,DI-04935,"Dystonia 28, childhood-onset",1
UniProt,DI-06462,"Intellectual developmental disorder, autosomal dominant 68",1
UniProt,DI-01033,Smith-Lemli-Opitz syndrome,1
UniProt,DI-03899,"Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",1
UniProt,DI-05254,"Tumoral calcinosis, hyperphosphatemic, familial, 3",1
UniProt,DI-06772,"Neutropenia, severe congenital, 10, autosomal recessive",1
UniProt,DI-02857,Birbeck granule deficiency,1
UniProt,DI-06224,Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities,1
UniProt,DI-03709,"Glaucoma 1, open angle, P",1
UniProt,DI-04472,Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,1
UniProt,DI-05212,"Encephalopathy, acute, infection-induced, 8, herpes-specific",1
UniProt,DI-06922,Autoinflammation with arthritis and vasculitis,1
UniProt,DI-04907,"Fanconi anemia, complementation group V",1
UniProt,DI-05547,"Intellectual developmental disorder with short stature, facial anomalies, and speech defects",1
UniProt,DI-06658,Diarrhea 13,1
UniProt,DI-01334,"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1",1
UniProt,DI-07076,"Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1",1
UniProt,DI-03816,"Myofibromatosis, infantile 2",1
UniProt,DI-04541,Lateral meningocele syndrome,1
UniProt,DI-07075,"Lipodystrophy, familial partial, 1",1
UniProt,DI-06715,"Intellectual developmental disorder, autosomal dominant 72",1
UniProt,DI-01997,Mucolipidosis type III complementation group C,1
UniProt,DI-03915,Mitochondrial DNA depletion syndrome 13,1
UniProt,DI-06063,Global developmental delay with speech and behavioral abnormalities,1
UniProt,DI-04751,Polycystic liver disease 2 with or without kidney cysts,1
UniProt,DI-05703,Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,1
UniProt,DI-03733,Gastrointestinal defects and immunodeficiency syndrome 1,1
UniProt,DI-04081,"Spinocerebellar ataxia, autosomal recessive, 16",1
UniProt,DI-05368,Spinocerebellar ataxia 48,1
UniProt,DI-03999,Verheij syndrome,1
UniProt,DI-04548,"Corneal dystrophy, Fuchs endothelial, 3",1
UniProt,DI-00710,"Intellectual developmental disorder, autosomal dominant 1",1
UniProt,DI-03755,"Dyskeratosis congenita, autosomal recessive, 5",1
UniProt,DI-03889,"Dyskeratosis congenita, autosomal dominant, 4",1
UniProt,DI-04431,"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3",1
UniProt,DI-02619,"Cerebral amyloid angiopathy, ITM2B-related 1",1
UniProt,DI-02617,"Cerebral amyloid angiopathy, ITM2B-related 2",1
UniProt,DI-04272,Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities,1
UniProt,DI-05749,"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy",1
UniProt,DI-06041,"Vertebral, cardiac, tracheoesophageal, renal, and limb defects",1
UniProt,DI-03757,Neurodegeneration with brain iron accumulation 5,1
UniProt,DI-06958,Immunodeficiency 128,1
UniProt,DI-06528,"Neuronopathy, distal hereditary motor, autosomal dominant 10",1
UniProt,DI-06933,Arterial tortuosity-bone fragility syndrome,1
UniProt,DI-06472,"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures",1
UniProt,DI-07107,"Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",1
UniProt,DI-06093,Pontocerebellar hypoplasia 1F,1
UniProt,DI-04151,Tatton-Brown-Rahman syndrome,1
UniProt,DI-05727,Heyn-Sproul-Jackson syndrome,1
UniProt,DI-01432,Cornelia de Lange syndrome 3 with or without midline brain defects,1
UniProt,DI-04500,"Deafness, autosomal recessive, 104",1
UniProt,DI-06409,"Deafness, autosomal dominant, 21",1
UniProt,DI-06198,Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum,1
UniProt,DI-07039,"Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures",1
UniProt,DI-07168,Dentin dysplasia 1C,1
UniProt,DI-01036,"Spastic paraplegia 4, autosomal dominant",1
UniProt,DI-03492,Combined oxidative phosphorylation deficiency 10,1
UniProt,DI-06170,"Encephalitis, acute, infection (viral)-induced, 11",1
UniProt,DI-06762,Xerosis and growth failure with immune and pulmonary dysfunction syndrome,1
UniProt,DI-04035,Short-rib thoracic dysplasia 10 with or without polydactyly,1
UniProt,DI-04435,Retinitis pigmentosa 71,1
UniProt,DI-06190,Bardet-Biedl syndrome 20,1
UniProt,DI-04093,Premature ovarian failure 8,1
UniProt,DI-06206,Spermatogenic failure 61,1
UniProt,DI-05952,Neurodevelopmental disorder with seizures and brain atrophy,1
UniProt,DI-02523,"Intellectual developmental disorder, X-linked 97",1
UniProt,DI-05577,Intellectual developmental disorder with short stature and variable skeletal anomalies,1
UniProt,DI-00823,Left ventricular non-compaction 1,1
UniProt,DI-06954,"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2",1
UniProt,DI-06169,Immunodeficiency 84,1
UniProt,DI-02546,"Hemangioma, capillary infantile",1
UniProt,DI-03790,GAPO syndrome,1
UniProt,DI-00991,Retinitis pigmentosa 31,1
UniProt,DI-05152,"Intellectual developmental disorder, autosomal dominant 51",1
UniProt,DI-01850,Hyaline fibromatosis syndrome,1
UniProt,DI-00170,MHC class I deficiency 1,1