TMEM138, transmembrane protein 138, 51524

N. diseases: 52; N. variants: 5
Disease: JOUBERT SYNDROME 16 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280906
Disease: JOUBERT SYNDROME 16
JOUBERT SYNDROME 16 		0.600 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280906
Disease: JOUBERT SYNDROME 16
JOUBERT SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C3280906
Disease: JOUBERT SYNDROME 16
JOUBERT SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C3280906
Disease: JOUBERT SYNDROME 16
JOUBERT SYNDROME 16 		0.600 GeneticVariation disease UNIPROT Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C3280906
Disease: JOUBERT SYNDROME 16
JOUBERT SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND