rs28931594, GJB2

N. diseases: 9
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.800 GeneticVariation UNIPROT HID and KID syndromes are associated with the same connexin 26 mutation. 12072059 2002
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.800 CausalMutation CLINVAR