BMP7, bone morphogenetic protein 7, 655

N. diseases: 197; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117553902
rs117553902
Entrez Id: 655
Gene Symbol: BMP7
BMP7
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555815731
rs1555815731
Entrez Id: 655
Gene Symbol: BMP7
BMP7
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398 2014
dbSNP: rs1555815731
rs1555815731
Entrez Id: 655
Gene Symbol: BMP7
BMP7
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. 20506283 2010
dbSNP: rs1555815731
rs1555815731
Entrez Id: 655
Gene Symbol: BMP7
BMP7
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias. 17003840 2007
dbSNP: rs1264171723
rs1264171723
Entrez Id: 655;112268270
Gene Symbol: BMP7;LOC112268270
BMP7;LOC112268270
CUI: C0025202
Disease:
melanoma 		0.010 GeneticVariation BEFREE We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific mutant Hras (Cdk4(R24C/R24C)/TPras) develop melanoma spontaneously, but penetrance is increased and age of onset reduced after neonatal ultraviolet radiation (UVR) exposure. 18386818 2008