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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Exudative Vitreoretinopathy 1133780NDP Gene; Low Density Lipoprotein Receptor-Related Protein 5; Frizzled Class Receptor 4Diseases of the eye and adnexaAutosomal, X-linked, Recessive, Dominant
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism212112Diseases of the circulatory systemAutosomal, Dominant
Obesity601665Leptin Receptor; FTO Alpha-Ketoglutarate-Dependent DioxygenaseEndocrine, nutritional and metabolic diseasesAutosomal
Immunodeficiency with Defective T-Cell Response to Interleukin 1243110Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanismAutosomal, X-linked, Recessive
Ciliary Discoordination due to Random Ciliary Orientation215518Diseases of the eye and adnexaAutosomal, Recessive
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Exudative Vitreoretinopathy 1133780 NDP Gene; Low Density Lipoprotein Receptor-Related Protein 5; Frizzled Class Receptor 4Diseases of the eye and adnexaAutosomal, X-linked, Recessive, Dominant
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism212112 Diseases of the circulatory systemAutosomal, Dominant
Obesity601665 Leptin Receptor; FTO Alpha-Ketoglutarate-Dependent DioxygenaseEndocrine, nutritional and metabolic diseasesAutosomal
Immunodeficiency with Defective T-Cell Response to Interleukin 1243110 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanismAutosomal, X-linked, Recessive
Ciliary Discoordination due to Random Ciliary Orientation215518 Diseases of the eye and adnexaAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Alkaline phosphatase, Liver 171760Hypophosphatasia, Infantile249Alkaline phosphatase, tissue-nonspecific isozymeP05186
Solute Carrier Family 45, Member 1 605763Intellectual Developmental Disorder with Neuropsychiatric Features50651Proton-associated sugar transporter AQ9Y2W3
NAD(P)H Dehydrogenase, Quinone 1 125860Leukemia, Acute Lymphoblastic1728NAD(P)H dehydrogenase [quinone] 1P15559
N-Acetyltransferase 1 108345Bladder Cancer9Arylamine N-acetyltransferase 1P18440
Cytochrome P450, Subfamily IIE 124040Bladder Cancer; Coronary Heart Disease, Susceptibility to, 11571Cytochrome P450 2E1P05181
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