Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.510 | Biomarker | disease | MGD | Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. | 26670829 | 2015 | ||||
|
0.510 | Biomarker | disease | MGD | "CHD7 deficiency in ""Looper"", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment." | 24840056 | 2014 | ||||
|
0.510 | Biomarker | disease | MGD | Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene. | 22539951 | 2012 | ||||
|
0.510 | Biomarker | disease | CTD_human | Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. | 21532573 | 2011 | ||||
|
0.510 | GeneticVariation | disease | BEFREE | We observed somatic and germline mosaicism as well as parent-to-child transmission of non-mosaic CHD7 mutations as causes of familial CHARGE syndrome. | 18074359 | 2008 | ||||
|
0.510 | Biomarker | disease | MGD | Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. | 17334657 | 2007 | ||||
|
0.510 | Biomarker | disease | MGD | Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome. | 17701983 | 2007 | ||||
|
0.510 | Biomarker | disease | CTD_human | Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. | 16615981 | 2006 | ||||
|
0.510 | Biomarker | disease | MGD | Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. | 16207732 | 2005 | ||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.200 | Biomarker | disease | MGD | Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. | 18386809 | 2008 | ||||
|
0.200 | Biomarker | disease | MGD |