| S.NO | Uniprot ID | Protein Name | Sequence Length | Chromo Repeats region | Disease |
| 1 | O14647 | Chromodomain-helicase-DNA-binding protein 2 | 1828 | "DISEASE: Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 2 | O14646 | Chromodomain-helicase-DNA-binding protein 1 | 1710 | "DISEASE: Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]: An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 3 | Q8TD26 | Chromodomain-helicase-DNA-binding protein 6 | 2715 | DISEASE: Note=A chromosomal aberration disrupting CHD6 has been found in a patient with mild to moderate mental retardation and minor facial anomalies. Translocation t(18;20)(q21. 1;q11. 2) with TCF4 producing a CHD6-TCF4 fusion transcript (PubMed:18627065). | |
| 4 | Q14839 | Chromodomain-helicase-DNA-binding protein 4 | 1912 | "DISEASE: Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 5 | Q8TDI0 | Chromodomain-helicase-DNA-binding protein 5 | 1954 | "DISEASE: Note=Defects in CHD5 may be a cause of the development of cancers from epithelial, neural and hematopoietic origin. CHD5 is one of the missing genes in the del(1p36), a deletion which is extremely common in this type of cancers. A decrease of its expression, results in increased susceptibility of cells to Ras-mediated transformation in vitro and in vivo (PubMed:17289567)". | |
| 6 | Q9HCK8 | Chromodomain-helicase-DNA-binding protein 8 | 2581 | "DISEASE: Autism 18 (AUTS18) [MIM:615032]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry". | |
| 7 | Q9P2D1 | Chromodomain-helicase-DNA-binding protein 7 | 2997 | "DISEASE: CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. ; DISEASE: Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations affecting the gene represented in this entry". |