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