DisGeNET - a database of gene-disease associations

Pitt-Hopkins-Like Syndrome 1, C2750246

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398124268

CNTNAP2

0.700

CausalMutation

CLINVAR

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

21827697

2011

dbSNP:

rs1554490549

CNTNAP2

0.700

CausalMutation

CLINVAR

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

16571880

2006

dbSNP:

rs1391540245

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs149032771

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554400338

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs201076428

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs371642222

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs730880275

CNTNAP2 ; LOC105375554

0.700

CausalMutation

CLINVAR

dbSNP:

rs730880276

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs752550849

CNTNAP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs771827120

CNTNAP2 ; LOC105375554

0.700

CausalMutation

CLINVAR