TMEM138, transmembrane protein 138, 51524

N. diseases: 52; N. variants: 5
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
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 GermlineCausalMutation disease ORPHANET Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.300 Biomarker disease GENOMICS_ENGLAND Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. 22282472 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 GeneticVariation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.100 Biomarker group HPO
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.100 GeneticVariation group CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO