Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		A 0.800 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		A 0.800 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		A 0.700 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs1169539647
rs1169539647
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908424
rs121908424
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		T 0.700 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0426817
Disease: Short ribs
Short ribs 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0152427
Disease: Polydactyly
Polydactyly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C1854912
Disease: Short long bone
Short long bone 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		T 0.700 CausalMutation CLINVAR