Disease: Congenital Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 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
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 Biomarker disease CTD_human Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 19029900 2008
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 GeneticVariation disease BEFREE The HYDIN gene located in human chromosome band 16q22.2 is a large gene encompassing 423 kb of genomic DNA that has been suggested as a candidate for an autosomal recessive form of congenital hydrocephalus. 16938426 2006
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.320 Biomarker disease CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003