| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Exudative Vitreoretinopathy 1 | 133780 | NDP Gene; Low Density Lipoprotein Receptor-Related Protein 5; Frizzled Class Receptor 4 | Diseases of the eye and adnexa | Autosomal, X-linked, Recessive, Dominant |
| Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism | 212112 | Diseases of the circulatory system | Autosomal, Dominant | |
| Obesity | 601665 | Leptin Receptor; FTO Alpha-Ketoglutarate-Dependent Dioxygenase | Endocrine, nutritional and metabolic diseases | Autosomal |
| Immunodeficiency with Defective T-Cell Response to Interleukin 1 | 243110 | Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | Autosomal, X-linked, Recessive | |
| Ciliary Discoordination due to Random Ciliary Orientation | 215518 | Diseases of the eye and adnexa | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| Alkaline phosphatase, Liver | 171760 | Hypophosphatasia, Infantile | 249 | Alkaline phosphatase, tissue-nonspecific isozyme | P05186 |
| Solute Carrier Family 45, Member 1 | 605763 | Intellectual Developmental Disorder with Neuropsychiatric Features | 50651 | Proton-associated sugar transporter A | Q9Y2W3 |
| NAD(P)H Dehydrogenase, Quinone 1 | 125860 | Leukemia, Acute Lymphoblastic | 1728 | NAD(P)H dehydrogenase [quinone] 1 | P15559 |
| N-Acetyltransferase 1 | 108345 | Bladder Cancer | 9 | Arylamine N-acetyltransferase 1 | P18440 |
| Cytochrome P450, Subfamily IIE | 124040 | Bladder Cancer; Coronary Heart Disease, Susceptibility to, 1 | 1571 | Cytochrome P450 2E1 | P05181 |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Exudative Vitreoretinopathy 1 | 133780 | NDP Gene; Low Density Lipoprotein Receptor-Related Protein 5; Frizzled Class Receptor 4 | Diseases of the eye and adnexa | Autosomal, X-linked, Recessive, Dominant | |
| Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism | 212112 | Diseases of the circulatory system | Autosomal, Dominant | ||
| Obesity | 601665 | Leptin Receptor; FTO Alpha-Ketoglutarate-Dependent Dioxygenase | Endocrine, nutritional and metabolic diseases | Autosomal | |
| Immunodeficiency with Defective T-Cell Response to Interleukin 1 | 243110 | Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | Autosomal, X-linked, Recessive | ||
| Ciliary Discoordination due to Random Ciliary Orientation | 215518 | Diseases of the eye and adnexa | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| Alkaline phosphatase, Liver | 171760 | Hypophosphatasia, Infantile | 249 | Alkaline phosphatase, tissue-nonspecific isozyme | P05186 | |
| Solute Carrier Family 45, Member 1 | 605763 | Intellectual Developmental Disorder with Neuropsychiatric Features | 50651 | Proton-associated sugar transporter A | Q9Y2W3 | |
| NAD(P)H Dehydrogenase, Quinone 1 | 125860 | Leukemia, Acute Lymphoblastic | 1728 | NAD(P)H dehydrogenase [quinone] 1 | P15559 | |
| N-Acetyltransferase 1 | 108345 | Bladder Cancer | 9 | Arylamine N-acetyltransferase 1 | P18440 | |
| Cytochrome P450, Subfamily IIE | 124040 | Bladder Cancer; Coronary Heart Disease, Susceptibility to, 1 | 1571 | Cytochrome P450 2E1 | P05181 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinical Significance | |
|---|---|---|---|---|---|---|
| NM_000243.2:c.726C>G | MEFV Innate Immunity Regulator, Pyrin | 104895127 | 97541 | |||
| NM_001171155.2:c.3G>C | PET100 Cytochrome c Oxidase Chaperone | 587777839 | 125441 | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | ||
| NM_000478.6:c.1540G>A | Alkaline phosphatase, Liver | 367657406 | 554421 | Hypophosphatasia, Infantile | ||
| NM_000478.6:c.407G>A | Alkaline phosphatase, Liver | 121918011 | 13675 | Hypophosphatasia, Infantile | ||
| NM_000478.6:c.1064T>C | Alkaline phosphatase, Liver | Hypophosphatasia, Infantile |