COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761249181
rs761249181
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Here, we report a missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability. 21868677 2011