TMEM87B, transmembrane protein 87B, 84910

N. diseases: 16; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.100 GeneticVariation disease CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation group CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 GeneticVariation disease CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. 24694933 2014
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 Biomarker group BEFREE Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. 24694933 2014
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 GeneticVariation group BEFREE We postulate that heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome. 24694933 2014
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.010 Biomarker group BEFREE Depletion of both fibulin-7B and TMEM87B resulted in more severe defects of cardiac development, suggesting that their concurrent loss may enhance the risk of a severe cardiac defect. 24694933 2014