Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.670 GermlineCausalMutation ORPHANET Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 23339108

2013

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.670 GermlineCausalMutation ORPHANET To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. 23456818

2013