Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.450 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.450 CausalMutation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.130 GeneticVariation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.130 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.120 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.110 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.110 CausalMutation CLINVAR

Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 CausalMutation CLINVAR