S.NO | Uniprot ID | Protein Name | Sequence Length | DH Repeats region | Disease |
1 | O60229 | Kalirin | 2985 | DISEASE: Coronary heart disease 5 (CHDS5) [MIM:608901]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | |
2 | O75962 | Triple functional domain protein | 3097 | "DISEASE: Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD44 patients manifest developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. Note=The disease may be caused by mutations affecting the gene represented in this entry". |