DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Meckel syndrome type 1 ×

Gene: TMEM216 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

CUI:	C3714506
Disease:	Meckel syndrome type 1

Meckel syndrome type 1

0.310

Biomarker

GENOMICS_ENGLAND

TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS.

20512146

2010

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

CUI:	C3714506
Disease:	Meckel syndrome type 1

Meckel syndrome type 1

0.310

Biomarker

GENOMICS_ENGLAND

TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS.

20512146

2010

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

CUI:	C3714506
Disease:	Meckel syndrome type 1

Meckel syndrome type 1

0.310

Biomarker

GENOMICS_ENGLAND

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

20036350

2010