DisGeNET - a database of gene-disease associations

Gene: ADAMTS18 ×

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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:	170692
Gene Symbol:	ADAMTS18

ADAMTS18

CUI:	C3809567
Disease:	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS

MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS

0.710

Biomarker

GENOMICS_ENGLAND

Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18.

2013