| S.NO | Uniprot ID | Protein Name | Sequence Length | PH Repeats region | Disease |
| 1 | Q96M96 | "FYVE, RhoGEF and PH domain-containing protein 4 " | 766 | "DISEASE: Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 2 | 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. | |
| 3 | P98174 | "FYVE, RhoGEF and PH domain-containing protein 1 " | 961 | "DISEASE: Aarskog-Scott syndrome (AAS) [MIM:305400]: An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Note=Defects in FGD1 are found in a patient with non-syndromal X-linked mental retardation". | |
| 4 | Q9Y4G2 | Pleckstrin homology domain-containing family M member 1 | 1056 | "DISEASE: Osteopetrosis, autosomal recessive 6 (OPTB6) [MIM:611497]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 5 | Q13424 | Alpha-1-syntrophin | 505 | "DISEASE: Long QT syndrome 12 (LQT12) [MIM:612955]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 6 | 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". | |