TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Microcephaly (physical finding) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. 10567047 1999