DisGeNET - a database of gene-disease associations

Pituitary Dwarfism Type 3, C0878683

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:

rs121917843

PROP1

0.800

CausalMutation

CLINVAR

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

25557026

2015

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

CLINVAR

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

21132537

2011

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

CLINVAR

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

22024773

2011

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs121917841

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs121917842

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs121917843

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs137853100

PROP1

0.800

GeneticVariation

UNIPROT

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

19128366

2009

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

CLINVAR

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

17526949

2006

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

CLINVAR

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

16984240

2006

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

CLINVAR

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

17526936

2006

dbSNP:

rs121917843

PROP1

0.800

CausalMutation

CLINVAR

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

16735499

2006

dbSNP:

rs121917843

PROP1

0.800

CausalMutation

CLINVAR

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

17526936

2006

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

CLINVAR

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

16131601

2005

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917841

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917842

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917843

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917843

PROP1

0.800

CausalMutation

CLINVAR

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs137853100

PROP1

0.800

GeneticVariation

UNIPROT

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

15531542

2004

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

UNIPROT

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.

12519826

2003

dbSNP:

rs121917839

PROP1

0.800

GeneticVariation

CLINVAR

PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family.

14614227

2003

dbSNP:

rs121917840

PROP1

0.800

GeneticVariation

UNIPROT

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.

12519826

2003