DYNC2H1, dynein cytoplasmic 2 heavy chain 1, 79659

N. diseases: 136; N. variants: 159
Disease: Majewski Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.600 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.600 Biomarker disease CTD_human NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.600 GermlineCausalMutation disease ORPHANET NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.600 GermlineCausalMutation disease ORPHANET NEK1 mutations cause short-rib polydactyly syndrome type majewski. 21211617 2011
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.600 CausalMutation disease CLINVAR