Retinopathy (Phenotype)

Phenotype:

SU004001

Synonyms:Noninflammatory retina disease

Id:HP:0000488

Description:Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

Results found

Linked to

	Label	Description
	CTNS Gene (Entity type)	ENSG00000040531 - cystinosin, lysosomal cystine transporter
	MTTP Gene (Entity type)	ENSG00000138823 - microsomal triglyceride transfer protein
	FAM222A Gene (Entity type)	ENSG00000139438 - family with sequence similarity 222 member A
	HLA-DPB1 Gene (Entity type)	ENSG00000236693 - major histocompatibility complex, class II, DP beta 1 [Source:HGNC Symbol;Acc:HGNC:4940]
	MC1R Gene (Entity type)	ENSG00000258839 - melanocortin 1 receptor
	HLA-DPA1 Gene (Entity type)	ENSG00000236177 - major histocompatibility complex, class II, DP alpha 1 [Source:HGNC Symbol;Acc:HGNC:4938]
	PSMG1 Gene (Entity type)	ENSG00000183527 - proteasome assembly chaperone 1
	FLNA Gene (Entity type)	ENSG00000196924 - filamin A
	MMP9 Gene (Entity type)	ENSG00000100985 - matrix metallopeptidase 9
	NEU1 Gene (Entity type)	ENSG00000184494 - neuraminidase 1 [Source:HGNC Symbol;Acc:HGNC:7758]

CTNS

Gene (Entity type)

ENSG00000040531 - cystinosin, lysosomal cystine transporter

MTTP

Gene (Entity type)

ENSG00000138823 - microsomal triglyceride transfer protein

FAM222A

Gene (Entity type)

ENSG00000139438 - family with sequence similarity 222 member A

HLA-DPB1

Gene (Entity type)

ENSG00000236693 - major histocompatibility complex, class II, DP beta 1 [Source:HGNC Symbol;Acc:HGNC:4940]

MC1R

Gene (Entity type)

ENSG00000258839 - melanocortin 1 receptor

HLA-DPA1

Gene (Entity type)

ENSG00000236177 - major histocompatibility complex, class II, DP alpha 1 [Source:HGNC Symbol;Acc:HGNC:4938]

PSMG1

Gene (Entity type)

ENSG00000183527 - proteasome assembly chaperone 1

FLNA

Gene (Entity type)

ENSG00000196924 - filamin A

MMP9

Gene (Entity type)

ENSG00000100985 - matrix metallopeptidase 9

NEU1

Gene (Entity type)

ENSG00000184494 - neuraminidase 1 [Source:HGNC Symbol;Acc:HGNC:7758]

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.