DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Large head (disorder) ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555619420

NF1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057518992

NFIA

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs764333096

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554709792

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554709683

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554709662

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554709654

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554649366

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

TCA

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554639173

NFIB

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692245

NPHS1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs587784177

NSD1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs587784177

NSD1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516048

NSD1

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

dbSNP:

rs863225460

PIK3CA

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519925

PIK3CA

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057515572

PMS2

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

ACT

0.700

GeneticVariation

CLINVAR

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

17557300

2007

dbSNP:

rs1057519946

PPP2R1A

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876661024

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs786204927

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786204875

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs786204858

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs786204856

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs786202918

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776667

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123316

PTEN

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

CausalMutation

CLINVAR