TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel syndrome type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Meckel syndrome. 21368913 2011
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		0.800 GeneticVariation UNIPROT The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
dbSNP: rs386834208
rs386834208
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1846357
Disease:
Meckel syndrome type 3 		T 0.800 GeneticVariation CLINVAR