Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR

Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR

Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR