Pharos: Fuchs' endothelial dystrophy (10 associated targets)

Disease Summary

Associated Targets (10)

Tbio

7

Tdark

2

Tclin

1

Explore Associated Targets

Mondo Description

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

Disease Ontology Description

A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.

Mondo Term and Equivalent IDs

MONDO:0005321: Fuchs' endothelial dystrophy

DC:0000643:

DOID:11555: Fuchs' endothelial dystrophy

EFO:0003946:

MESH:D005642:

NCIT:C84721:

OMIMPS:136800:

Orphanet:98974:

SCTID:193839007:

UMLS:C0016781:

UMLS:CN207231:

GWAS Targets (6)

Items per page:

1 – 5 of 6

Target	TDL	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)
Transcription factor 4 (TCF4)	Tbio	2	2	0	5.2	88.3

Laminin subunit gamma-2 (LAMC2)	Tbio	1	1	0	1.4	65.5

Laminin subunit gamma-1 (LAMC1)	Tbio	1	1	0	1.4	65.5

KN motif and ankyrin repeat domain-containing protein 4 (KANK4)	Tdark	1	1	0	2.1	62.1

Nucleoside diphosphate kinase 7 (NME7)	Tbio	1	1	0	1.4	27.2

Items per page:

1 – 5 of 6

Target	TDL	Beta Count	Odds Ratio	Evidence (Mean Rank Score)
Transcription factor 4 (TCF4)	Tbio	0	5.2	88.3

Laminin subunit gamma-2 (LAMC2)	Tbio	0	1.4	65.5

Laminin subunit gamma-1 (LAMC1)	Tbio	0	1.4	65.5

KN motif and ankyrin repeat domain-containing protein 4 (KANK4)	Tdark	0	2.1	62.1

Nucleoside diphosphate kinase 7 (NME7)	Tbio	0	1.4	27.2