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Details of MYH9 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MYH9 | --- | P35579 | MYH9_HUMAN | 4627 | 2LNK 3ZWH 4ETO 2LNK 3ZWH 4ETO | ENSG00000100345 | Cellular myosin t | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia | 160775 | Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia | 160775 | Fechtner syndrome (FTNS) [MIM:153640]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia | FTNS is distinguished by Alport-like clinical features of sensorineural deafness | Alport syndrome | sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Note=The disease is caused by mutations affecting the gene represen | Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy | 160775 | Deafness | 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. Note=Th | Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600208 | Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years | those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age | Note=Genetic variations in MYH9 are associated with non- diabetic end stage renal disease (ESRD). | 600208 |
Phenotypes
Abnormal bleeding, Abnormal internal genitalia, Abnormal platelet volume, Abnormal thrombosis, Abnormalities of the peripheral arteries, Abnormality of blood and blood-forming tissues, Abnormality of blood circulation, Abnormality of cardiovascular system physiology, Abnormality of female internal genitalia, Abnormality of head and neck, Abnormality of metabolism/homeostasis, Abnormality of renal physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the cardiovascular system, Abnormality of the coronary arteries, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lens, Abnormality of the menstrual cycle, Abnormality of the middle ear, Abnormality of the nose, Abnormality of the renal tubule, Abnormality of the skin, Abnormality of the systemic arterial tree, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vasculature, Abnormality of thrombocytes, Abnormality of urine homeostasis, Age of onset, All, Arterial stenosis, Arteriosclerosis, Atherosclerosis, Autosomal dominant inheritance, Bilateral conductive hearing impairment, Bruising susceptibility, Buphthalmos, Cataract, Conductive hearing impairment, Congenital cataract, Congenital glaucoma, Coronary artery disease, End stage renal disease, Epistaxis, Functional abnormality of the inner ear, Functional abnormality of the middle ear, Gastrointestinal hemorrhage, Generalized abnormality of skin, Giant platelets, Glaucoma, Hearing abnormality, Hearing impairment, Hematuria, High-frequency hearing impairment, High-frequency sensorineural hearing impairment, Hypertension, Increased mean platelet volume, Internal hemorrhage, Juvenile onset, Menorrhagia, Microhematuria, Mode of inheritance, Myocardial infarction, Nephritis, Onset, Onset and clinical course, Phenotypic abnormality, Progressive hearing impairment, Progressive sensorineural hearing impairment, Proteinuria, Puberty and gonadal disorders, Renal insufficiency, Sensorineural hearing impairment, Subcutaneous hemorrhage, Vascular skin abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||