TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		0.720 Biomarker disease CTD_human
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease CTD_human
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 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: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker disease HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
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: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO