Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Short rib-polydactyly syndrome, Verma-Naumoff type |
DYNC2H1 |
disease |
C0432197 |
GeneticVariation |
0.75 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
DYNC2H1 |
disease |
C0432197 |
GermlineCausalMutation |
0.75 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
DYNC2H1 |
disease |
C0432197 |
Biomarker |
0.75 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
IFT80 |
disease |
C0432197 |
GermlineCausalMutation |
0.5 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
IFT80 |
disease |
C0432197 |
Biomarker |
0.5 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
WDR34 |
disease |
C0432197 |
GermlineCausalMutation |
0.31 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
WDR34 |
disease |
C0432197 |
GeneticVariation |
0.31 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
WDR35 |
disease |
C0432197 |
GermlineCausalMutation |
0.3 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
WDR60 |
disease |
C0432197 |
GermlineCausalMutation |
0.3 |
disgenet |
Short rib-polydactyly syndrome, Verma-Naumoff type |
NEK1 |
disease |
C0432197 |
GeneticVariation |
0.01 |
disgenet |
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