LHX1, LIM homeobox 1, 3975

N. diseases: 44; N. variants: 0
Disease: CHROMOSOME 17q12 DELETION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281138
Disease: CHROMOSOME 17q12 DELETION SYNDROME
CHROMOSOME 17q12 DELETION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. 22740494 2012