CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908445
rs121908445
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2677504
Disease:
AUTISM, SUSCEPTIBILITY TO, 15 		C 0.700 SusceptibilityMutation CLINVAR
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: rs2710102
rs2710102
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2677504
Disease:
AUTISM, SUSCEPTIBILITY TO, 15 		G 0.700 SusceptibilityMutation 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
dbSNP: rs7794745
rs7794745
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2677504
Disease:
AUTISM, SUSCEPTIBILITY TO, 15 		T 0.700 SusceptibilityMutation CLINVAR
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: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004936
Disease:
Mental disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0033975
Disease:
Psychotic Disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0033975
Disease:
Psychotic Disorders 		C 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802568
rs802568
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004936
Disease:
Mental disorders 		0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802524
rs802524
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0033975
Disease:
Psychotic Disorders 		0.700 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
dbSNP: rs802524
rs802524
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004936
Disease:
Mental disorders 		0.700 GeneticVariation GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
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: rs1718101
rs1718101
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs10255956
rs10255956
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4549702
rs4549702
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C4049938
Disease:
Physical Activity Measurement 		G 0.700 GeneticVariation GWASCAT Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. 23192594 2013
dbSNP: rs4549702
rs4549702
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. 23192594 2013
dbSNP: rs802571
rs802571
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT A genome-wide association study of late-onset Alzheimer's disease in a Japanese population. 26049409 2015