Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 GeneticVariation CLINVAR The Npr2(pwe/pwe) mouse is a model for the human skeletal dysplasia acromesomelic dysplasia, Maroteaux type (AMDM). 23065701

2013
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 GeneticVariation CLINVAR Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 15146390

2004
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation CLINVAR A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. 23065701

2013
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 GeneticVariation CLINVAR Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 15146390

2004
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		0.710 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		0.600 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. 25703509

2015
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. 24259409

2014
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 15146390

2004
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0239399
Disease: Short extremities
Short extremities 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0239399
Disease: Short extremities
Short extremities 		0.100 GeneticVariation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0426874
Disease: Trident hand
Trident hand 		0.100 GeneticVariation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR