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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 **5501 - 5525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	APRT CYP19A1 SDC1	1588 353 6382	Homo sapiens (human)
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:10783	methemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:12400	kleptomania Aliases: Pathological stealing	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0060098	osteoblastoma	APRT CHI3L1	1116 353	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	APRT CEL CYB5R4 FBP1 FOLR2 GAD1 GCK GGT1 GPD1 HK1 HK2 HK3 HKDC1 IL18R1 INS PCK1 PDHX PDX1 PLCG1 PPP1R3B SACM1L SLC2A2	1056 2203 22908 2350 2571 2645 2678 2819 3098 3099 3101 353 3630 3651 5105 51167 5335 6514 79660 80201 8050 8809	Homo sapiens (human)
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:4647	trilateral retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 5973 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)
DOID:3973	thyroid gland medullary carcinoma Aliases: Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma	APRT CBR1 CEACAM5 CEACAM7 CHGA CHPT1 CYP1A2 DHDDS FCN2 FUT4 G6PD GFRA1 GLB1 HK2 ICAM1 MCAT MRC1 NTM PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS1 PTGS2 RPIA SDHB SDHC SDHD SHMT1 SMUG1 SOAT1 SORD TYMP	1048 1087 1113 1544 1890 2220 22934 23583 2526 2539 2674 2720 27349 3099 3383 353 4360 4860 50863 5290 5291 5293 5294 56994 5742 5743 6390 6391 6392 6470 6646 6652 79947 873	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	APRT CAT CD38 CD44 CNTN2 CYP1A1 ENO2 FCGR3B FUT4 ICAM1 LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PSMD10 PTEN RENBP SACM1L SELL SOAT1 TIGAR TMED5 TMED9 VCAM1	10135 1543 2026 2215 22908 2526 3383 353 3938 3956 3958 3965 4360 4507 4684 50999 5290 5291 5293 5294 5335 54732 57103 5716 5728 5973 6402 6646 6900 7412 847 952 960	Homo sapiens (human)
DOID:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)
DOID:9471	meningitis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 IGF2 LYZ MBL2 NEU1 OGG1 PARP1 PLAUR PRNP	1040 1116 142 2588 3383 3481 353 4069 4153 4758 4968 5329 55556 5621 57124 847	Homo sapiens (human)
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)

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