TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Disease: Meckel-Gruber syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.420 GeneticVariation disease BEFREE Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. 31663672 2019
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.420 GermlineCausalMutation disease ORPHANET Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226 2013
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.420 GeneticVariation disease BEFREE Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226 2013
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.420 GeneticVariation disease CLINVAR