Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | GeneticVariation | disease | BEFREE | A mutation in the hydin gene has been recently described as one possible mechanism leading to lethal congenital hydrocephalus in mice, and a similar defect is proposed to be involved in an autosomal recessive form of hydrocephalus in human. | 24777681 | 2013 | ||||
|
0.630 | GeneticVariation | disease | BEFREE | Almost 70 years after the hy3 mouse possessing Hydin mutations was described as a recessive hydrocephalus model, we report HYDIN mutations in PCD-affected persons without hydrocephalus. | 23022101 | 2012 | ||||
|
0.630 | GeneticVariation | disease | BEFREE | Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. | 19029900 | 2008 | ||||
|
0.630 | Biomarker | disease | CTD_human | Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. | 19029900 | 2008 | ||||
|
0.630 | Biomarker | disease | CTD_human | Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. | 12719380 | 2003 | ||||
|
0.630 | Biomarker | disease | MGD | Hydrocephalus-3, a Murine mutant. II. Changes in the brain extracellular space. | 4732188 | 1973 | ||||
|
0.630 | Biomarker | disease | MGD | The pathophysiology and morphology of murine hydrocephalus in Hy-3 and Ch mutants. | 4784576 | 1973 | ||||
|
0.630 | Biomarker | disease | HPO |