CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Pitt-Hopkins-Like Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124268
rs398124268
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		A 0.700 CausalMutation CLINVAR Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 21827697 2011
dbSNP: rs1554490549
rs1554490549
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		C 0.700 CausalMutation CLINVAR Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
dbSNP: rs1391540245
rs1391540245
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs149032771
rs149032771
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554400338
rs1554400338
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201076428
rs201076428
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs371642222
rs371642222
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730880275
rs730880275
Entrez Id: 26047;105375554
Gene Symbol: CNTNAP2;LOC105375554
CNTNAP2;LOC105375554
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730880276
rs730880276
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs752550849
rs752550849
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771827120
rs771827120
Entrez Id: 26047;105375554
Gene Symbol: CNTNAP2;LOC105375554
CNTNAP2;LOC105375554
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		C 0.700 CausalMutation CLINVAR