Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR

Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR

Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 GeneticVariation CLINVAR

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation CLINVAR