TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.100 GeneticVariation disease CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006