CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
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
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
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: rs35953626
rs35953626
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
0.700 GeneticVariation UNIPROT Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184 2000
dbSNP: rs794726665
rs794726665
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
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: rs1007534611
rs1007534611
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1007534611
rs1007534611
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1169539647
rs1169539647
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs121908424
rs121908424
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C4024597
Disease:
Aplasia/Hypoplasia involving the pelvis
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0239234
Disease:
Low set ears
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0024507
Disease:
Majewski Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C1837482
Disease:
Thoracic hypoplasia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0265660
Disease:
Syndactyly of the toes
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0025990
Disease:
Micrognathism
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0426817
Disease:
Short ribs
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0423109
Disease:
Upward slant of palpebral fissure
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0240912
Disease:
Vertical Talus
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0424731
Disease:
Single transverse palmar crease
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C1854912
Disease:
Short long bone
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908425
rs121908425
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0152427
Disease:
Polydactyly
T 0.700 CausalMutation CLINVAR
dbSNP: rs1300178432
rs1300178432
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1373632260
rs1373632260
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs1424976594
rs1424976594
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1446547358
rs1446547358
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0457013
Disease:
Weyers acrofacial dysostosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1446547358
rs1446547358
Entrez Id: 1400;2121
Gene Symbol: CRMP1;EVC
CRMP1;EVC
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
T 0.700 CausalMutation CLINVAR