Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80201
Gene Symbol: HKDC1
HKDC1
0.010 GeneticVariation disease BEFREE A homozygous missense variant (c.173C > T, p.T58 M) was found in HKDC1 in two unrelated families presenting late-onset retinal degeneration. 30085091 2018