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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **551 - 575** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)
DOID:0110406	retinitis pigmentosa 30 Aliases: RP30	ELOVL4 GPX3 RPE	2878 6120 6785	Homo sapiens (human)
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	COG4	25839	Homo sapiens (human)
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	ACE CYP1B1 HPSE PNP VCAM1	10855 1545 1636 4860 7412	Homo sapiens (human)
DOID:11563	retinal vasculitis	LGALS1	3956	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:12514	retinal perforation Aliases: Retinal break Retinal dialysis Retinal tear	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:12165	retinal lattice degeneration Aliases: Palisade degeneration of retina	RPE	6120	Homo sapiens (human)
DOID:6929	retinal edema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:5327	retinal detachment	ALG12 B3GALNT2 B4GAT1 CHI3L1 CHST14 COL9A2 CRPPA CYP1B1 DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RPE RXYLT1 TNF XYLT2	10329 10585 11041 1116 113189 1298 148789 1545 1605 2218 29925 29954 55624 5728 6120 64132 7124 729920 79087 79147 84197 84892 9215	Homo sapiens (human)
DOID:8466	retinal degeneration Aliases: degeneration of retina	ATP6V1A CLN5 CS DHDDS GNPTAB MAN2B1 PDHA1 PDHA2 PKD2 PLCB4 PNPLA6 POMGNT1 POMK SUMF1 SYNJ1	10908 1203 1431 285362 4125 5160 5161 523 5311 5332 55624 79158 79947 84197 8867	Homo sapiens (human)
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)
DOID:8483	retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:8538	reticulosarcoma Aliases: histiocytic lymphoma large-cell Lymphomas	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS HYAL2 ICAM1 IDH1 IDH2 KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 3383 3417 3418 347734 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 56052 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 8692 929 933 945 952 960	Homo sapiens (human)
DOID:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	Homo sapiens (human)
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	ACE ENPP1 PIGT SCD5 SCD XYLT1 XYLT2	1636 51604 5167 6319 64131 64132 79966	Homo sapiens (human)

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