Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Hereditary bundle branch system defect (10.138, 10.43, 10.177, 10.187, 10.167) | 113900 | |
Hereditary motor and sensory neuropathy – Lom (with deafness) (14.27) | 601455 | |
Hereditary motor and sensory neuropathy 2A (14.48, 14.80, 14.72) | 609260 | |
Hereditary motor and sensory neuropathy V (12.38) | 600361 | ? - (4q34.3-q35.2) |
Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.48, 14.80, 14.72) | 601152 | |
Hereditary motor and sensory, neuropathy, proximal, type (14.71, 15.57) | 604484 | |
Hereditary motor and sensory, type 1C (14.3) | 601098 | |
Hereditary myopathy with early respiratory failure (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | 603689 | |
Hereditary peripheral neuropathy (14.135) | ||
hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.103) | ? - (3p24-p22) | |
Hereditary sensory and autonomic neuropathy type IV (14.109) | 256800 | |
Hereditary sensory and autonomic neuropathy type VI (14.111) | 614653 | |
Hereditary sensory and autonomic neuropathy type VIII (14.113) | 616488 | |
Hereditary sensory neuropathy type IF (14.117) | 615632 | |
Hereditary sensory neuropathy with dementia and hearing loss (14.116) | ||
Hereditary sensory neuropathy, type IIB (14.106) | 613115 | |
Hutchinson-Gilford progeria syndrome (1.3, 1.4, 10.39, 2.17, 14.81) | 176670 | |
Hydrocephalus with Hirschspung disease and cleft palate (15.87) | 142623 | |
Hyperckemia, idiopathic (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | 123320 | |
Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | 170500 | |
Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | 613345 | |
Hypertrophic cardiomyopathy related calreticulin 3 (10.20) | 613875 | |
Hypertrophic cardiomyopathy related to actinin-2 (10.64, 10.25, 3.48, 4.10) | ||
Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.80, 10.22) | ||
Hypertrophic cardiomyopathy related to cardiac myopalladin (10.74, 3.13, 10.24, 10.99) | 615248 | |
Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.85) | ||
Hypertrophic cardiomyopathy related to myozenin 2 (10.17) | ||
Hypertrophic cardiomyopathy related to nexilin (10.66, 10.21) | ||
Hypertrophic cardiomyopathy related to phospholamban (10.53, 10.19) | ||
Hypertrophic cardiomyopathy related to TCAP (10.51, 2.16, 10.27) | 607487 | |
Hypertrophic cardiomyopathy related to ZASP (5.5, 10.41, 4.19, 10.26, 10.106) | 601493 | |
Hypertrophic cardiomyopathy, 21 (10.23) | ? - (7p12.1-q21) | |
Hypertrophic cardiomyopathy, 28 (10.30) | 619402 | |
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.34) | ||
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.31) | ||
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.22) | 600649 | |
Hypokalaemic periodic paralysis (7.11, 10.182) | 170400 | |
Hypokalaemic periodic paralysis (7.5) | ||
Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.44, 1.23, 3.57) | 170400 | |
Hypokalemic periodic paralysis (7.8, 8.5, 3.44, 1.23, 3.57) | 170400 |