Pharos : Disease Details

Disease Summary

Associated Targets (59)

Tbio

Tchem

Tclin

Tdark

Mondo Description

A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.

Disease Ontology Description

A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.

Mondo Term and Equivalent IDs

MONDO:0015486: keratoconus

COHD:374362:

DOID:10126: keratoconus

GARD:0006824:

ICD9:371.60:

MESH:D007640:

NCIT:C26806:

OMIMPS:148300:

Orphanet:156071:

SCTID:65636009:

UMLS:C0022578:

GWAS Targets (111)

Items per page:

1 – 5 of 111

Target	TDL	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)
Cell cycle exit and neuronal differentiation protein 1 (CEND1)	Tbio	2	2	1	6.6	82.1

Glutamine amidotransferase-like class 1 domain-containing protein 1 (GATD1)	Tdark	2	2	1	6.6	82.1

DNA-directed RNA polymerases I, II, and III subunit RPABC5 (POLR2L)	Tbio	2	2	1	6.6	82.1

Proapoptotic nucleolar protein 1 (PANO1)	Tdark	2	2	1	6.6	82.1

60S acidic ribosomal protein P2 (RPLP2)	Tbio	2	2	1	6.6	82.1

Items per page:

1 – 5 of 111

Target	TDL	Beta Count	Odds Ratio	Evidence (Mean Rank Score)
Cell cycle exit and neuronal differentiation protein 1 (CEND1)	Tbio	1	6.6	82.1

Glutamine amidotransferase-like class 1 domain-containing protein 1 (GATD1)	Tdark	1	6.6	82.1

DNA-directed RNA polymerases I, II, and III subunit RPABC5 (POLR2L)	Tbio	1	6.6	82.1

Proapoptotic nucleolar protein 1 (PANO1)	Tdark	1	6.6	82.1

60S acidic ribosomal protein P2 (RPLP2)	Tbio	1	6.6	82.1