TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: RHYNS syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.510 GeneticVariation disease UNIPROT Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome. 29891882 2018
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.510 GeneticVariation disease BEFREE Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome. 29891882 2018
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND