Genes Causing Hereditary Diseases
Note: Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.
| HUGO Symbol | Locus | Gene product | Associated disease | Notes | Genecard |
| APC | 5q21-q22 | Adenomatous polyposis coli protein | Familial adenomatous polyposis | -- | GeneCard for APC |
| ASPM | 1q31 | Abnormal spindle-like microcephaly-associated protein | Microcephaly | -- | GeneCard for ASPM |
| BDNF | 11p13 | Brain-derived neurotrophic factor | Congenital Central Hypoventilation Syndrome | -- | GeneCard for BDNF |
| CFTR | 7q31.2 | Cystic fibrosis transmembrane conductance regulator | Cystic Fibrosis | One of the first genetic diseases for which gene therapy was believed to be achievable. doi:10.1517/17425247.2.2.269 PMID 16296753 | GeneCard for CFTR |
| CREBBP | 16p13.3 | CREB binding protein | Rubinstein-Taybi syndrome | -- | GeneCard for CREBBP |
| CRH | 8q13 | Corticotropin releasing hormone | Cushing's syndrome | -- | GeneCard for CRH |
| CXCR4 | 2q21 | Chemokine (C-X-C motif) receptor 4 / fusin | WHIM syndrome | -- | GeneCard for CXCR4 |
| DHFR | 5q11.2-q13.2 | Dihydrofolate reductase | Folate deficiency | -- | GeneCard for DHFR |
| HFE | 6p21.3 | Hereditary hemochromatosis protein precursor | Haemochromatosis | -- | GeneCard for HFE |
| KRT14 | 17q12-q21 | Keratin | Epidermolysis bullosa | -- | GeneCard for KRT14 |
| KRT5 | 12q13 | Keratin | Epidermolysis bullosa | -- | GeneCard for KRT5 |
| PGL2 | 11q13.1 | Paraganglioma or familial glomus tumors 2 | Paraganglioma | -- | GeneCard for PGL2 |
| PHF8 | Xp11.22 | PHD finger protein 8 | Siderius X-linked mental retardation syndrome | Mutations in the histone demethylase PHF8 cause cleft lip and palate and mental retardation. doi:10.1093/hmg/ddp480 PMID 19843542 | GeneCard for PHF8 |
| RHO | 3q21-q24 | Rhodopsin | Retinitis pigmentosa | -- | GeneCard for RHO |
| SDHB | 1p36.1-p35 | Succinate dehydrogenase complex subunit B | Pheochromocytoma/Paraganglioma | -- | GeneCard for SDHB |
| SDHC | 1q21 | Succinate dehydrogenase complex subunit C | Pheochromocytoma/Paraganglioma | -- | GeneCard for SDHC |
| SDHD | 11q23 | Succinate dehydrogenase complex subunit D | Pheochromocytoma/Paraganglioma | -- | GeneCard for SDHD |
| SRY | Yp11.3 | Testis determining factor / Sex determining region Y | Swyer syndrome / Gonadal dysgenesis / Hermaphroditism | -- | GeneCard for SRY |
| TSC1 | 9q34 | Hamartin | Tuberous sclerosis | -- | GeneCard for TSC1 |
| TSC2 | 16p13.3 | Tuberin | Tuberous sclerosis | -- | GeneCard for TSC2 |
Read more about this topic: List Of Human Genes
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