Stargardt disease | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
STARGARDT DISEASE	827 MESH:D000080362 MONDO:0019353	ABCA4	Causal	20633576	CTD, Orphanet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		PROM1	Causal	18654668	Disgenet, Orphanet	Transcriptional misregulation in cancer
		PRPH2	Causal	—	Orphanet	—
		CNGB3	Unknown	15712225	Orphanet	cAMP signaling pathway
		ELOVL4	Unknown	20633576	Disgenet, Orphanet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
STARGARDT DISEASE 1	248200 C1855465	ABCA4	Unknown	—	Disgenet, HPO	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ABCB4	Unknown	—	Disgenet	ABC transporters Bile secretion PPARA activates gene expression +2 more
		CNGB3	Unknown	—	Disgenet	cAMP signaling pathway
		LCA5	Unknown	—	Disgenet	—
		LRAT	Unknown	—	Disgenet	Retinol metabolism Metabolic pathways Vitamin digestion and absorption +3 more
		MFSD8	Unknown	—	Disgenet	Lysosome
		RHO	Unknown	—	Disgenet	Phototransduction The canonical retinoid cycle in rods (twilight vision) Activation of the phototransduction cascade +4 more
		RPE65	Unknown	—	Disgenet	Retinol metabolism Metabolic pathways The canonical retinoid cycle in rods (twilight vision)
		SPATA7	Unknown	—	Disgenet	—
STARGARDT DISEASE 3	C1838644 600110 MESH:C535805 MONDO:0010819	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
STARGARDT DISEASE 3	C1838644 600110 MESH:C535805 MONDO:0010819	ELOVL4	Causal	15557430 11726641 11138005	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
STARGARDT DISEASE 4	603786 C1863534 MESH:C535521 MONDO:0011370	PROM1	Causal	—	CTD, ClinVar, Disgenet, HPO	Transcriptional misregulation in cancer
STARGARDT DISEASE 5	621259	RDH8	Unknown	—	ClinVar	Retinol metabolism Metabolic pathways
STARGARDTS DISEASE	C0271093	ABCA4	Unknown	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		BEST1	Unknown	—	Disgenet	Stimuli-sensing channels
		CERKL	Unknown	—	Disgenet	—
		CNGB3	Unknown	—	Disgenet	cAMP signaling pathway
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		CRB1	Unknown	—	Disgenet	Hippo signaling pathway
		CRX	Unknown	—	Disgenet	—
		ELOVL4	Unknown	11138005 11726641 15557430	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
		EYS	Unknown	—	Disgenet	—
		FLVCR1	Unknown	—	Disgenet	Heme biosynthesis Iron uptake and transport
		GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
		KCNV2	Unknown	—	Disgenet	Voltage gated Potassium channels
		LRIT3	Unknown	—	Disgenet	—
		OPA1	Unknown	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		PCARE	Unknown	—	Disgenet	—
		PROM1	Unknown	—	Disgenet	Transcriptional misregulation in cancer
		PRPH2	Unknown	—	Disgenet	—
		RDH12	Unknown	—	Disgenet	Retinol metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		SNRNP200	Unknown	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		TULP1	Unknown	—	Disgenet	—