DisGeNET - a database of gene-disease associations

TMTC3, transmembrane O-mannosyltransferase targeting cadherins 3, 160418

N. diseases: 57; N. variants: 11

Disease: LISSENCEPHALY 8 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057517696

rs1057517696

Entrez Id:	160418
Gene Symbol:	TMTC3

TMTC3

CUI:	C4310646
Disease:

LISSENCEPHALY 8

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057517697

rs1057517697

Entrez Id:	160418
Gene Symbol:	TMTC3

TMTC3

CUI:	C4310646
Disease:

LISSENCEPHALY 8

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057517698

rs1057517698

Entrez Id:	160418
Gene Symbol:	TMTC3

TMTC3

CUI:	C4310646
Disease:

LISSENCEPHALY 8

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519417

rs1057519417

Entrez Id:	160418
Gene Symbol:	TMTC3

TMTC3

CUI:	C4310646
Disease:

LISSENCEPHALY 8

CTT

0.700

CausalMutation

CLINVAR

dbSNP:

rs754200057

rs754200057

Entrez Id:	160418
Gene Symbol:	TMTC3

TMTC3

CUI:	C4310646
Disease:

LISSENCEPHALY 8

G

0.700

CausalMutation

CLINVAR