TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 GeneticVariation disease CLINVAR
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
0.950 Biomarker disease CTD_human
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6
0.900 Biomarker disease CTD_human
CUI: C1857662
Disease: COACH syndrome
COACH syndrome
0.740 CausalMutation disease CLINVAR
CUI: C1857662
Disease: COACH syndrome
COACH syndrome
0.740 Biomarker disease CTD_human
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
0.710 CausalMutation disease CLINVAR
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
0.710 Biomarker disease CTD_human
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
0.710 GeneticVariation disease CLINVAR
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.680 GeneticVariation disease CLINVAR
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
0.600 Biomarker disease CTD_human
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
0.600 CausalMutation disease CLINVAR
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
0.600 GeneticVariation disease CLINVAR
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.510 Biomarker disease MGD
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.440 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.430 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.430 GeneticVariation disease CLINVAR
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital
0.410 Biomarker disease HPO
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.390 Biomarker disease GENOMICS_ENGLAND
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.320 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.320 GeneticVariation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease
0.200 Biomarker disease MGD