| S.NO | Uniprot ID | Protein Name | Sequence Length | SH3 Repeats region | Disease |
| 1 | Q9Y5K6 | CD2-associated protein | 639 | "DISEASE: Focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry". | |
| 2 | Q8TF17 | SH3 domain and tetratricopeptide repeat-containing protein 2 | 1288 | "DISEASE: Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: 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. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 3 | P19878 | Neutrophil cytosol factor 2 | 526 | "DISEASE: Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 4 | Q96MF2 | SH3 and cysteine-rich domain-containing protein 3 | 364 | "DISEASE: Native American myopathy (NAM) [MIM:255995]: A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 5 | 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. | |
| 6 | P14598 | Neutrophil cytosol factor 1 | 390 | "DISEASE: Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 7 | A1X283 | SH3 and PX domain-containing protein 2B | 911 | "DISEASE: Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 8 | O15117 | FYN-binding protein 1 | 783 | "DISEASE: Thrombocytopenia 3 (THC3) [MIM:273900]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 9 | 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". | |