Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		disease 0.950 None 1.000 2 12 2004 2019
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		disease 0.710 None 1.000 2 5 2004 2019
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		disease 0.600 strong 1.000 0 6 2013 2014
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.400 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 3 1 2004 2015
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 2
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 2
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 2
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0426874
Disease: Trident hand
Trident hand 		phenotype 0.100 None 0 2
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype 0.100 None 0 3
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C4310709
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		disease 0.100 None 0 1