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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 **2326 - 2350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	ALPP ATRNL1 CALR CLEC1B CYP2J2 FUT1 G6PD GOLPH3 HPRT1 ICAM5 IDH2 IL18R1 LMAN1 MCFD2 PIGA PIK3CD PKLR POGLUT1 SMUG1 SOAT1 UGT1A1	1573 23583 250 2523 2539 26033 3251 3418 3998 51266 5277 5293 5313 54658 56983 64083 6646 7087 811 8809 90411	Homo sapiens (human)
DOID:0060402	chromosome 17p13.1 deletion syndrome	ALPP ATRNL1 CD33 CD38 COMT CYP2B6 FCN2 OCRL PAFAH1B1 PIGA PIGN PLCB1 PLCE1 PLCG1 PTEN SLC17A5	1312 1555 2220 23236 23556 250 26033 26503 4952 5048 51196 5277 5335 5728 945 952	Homo sapiens (human)
DOID:5704	sclerosing liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:5690	well-differentiated liposarcoma Aliases: atypical lipomatous tumor	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ALPP ATRNL1 CYP27A1 CYP7A1 CYP8B1 HMGCS2 LGALS1	1581 1582 1593 250 26033 3158 3956	Homo sapiens (human)
DOID:450	myotonic disease	ALPP ATRNL1 CYP2B6 HSPG2 IDS MRC1 MTM1 PGD PLCB1 PRKAA2 PRNP SLC35G1 ST8SIA4 UGT8	1555 159371 23236 250 26033 3339 3423 4360 4534 5226 5563 5621 7368 7903	Homo sapiens (human)
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	ALPP ATRNL1 OCRL PAFAH1B1 SLC17A5	250 26033 26503 4952 5048	Homo sapiens (human)
DOID:0050486	exanthem	ALPP BST2 CD44 CLEC7A CYP27B1 CYP2C9 CYP2E1 ENO1 ENOSF1 ENPP1 GLUL HPGDS IDH1 IDH2 KDSR LACC1 LDHB LGALS3 LGALS9 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDHA SDHB SDHC SDHD SIRT6 SMUG1 TPI1	144811 1559 1571 1594 2023 23583 250 2531 27306 2752 3417 3418 3945 3958 3965 4069 51548 5167 5290 5291 5293 5294 55556 5728 5743 6389 6390 6391 6392 64581 684 7167 960	Homo sapiens (human)
DOID:2660	cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)
DOID:5565	adult teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)
DOID:7079	adult cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	AMACR APEX1 CYP19A1 PRSS8 PTGS2	1588 23600 328 5652 5743	Homo sapiens (human)
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	AMACR CAT CYP4F3 FIG4 GPX2 HPSE LPIN1 MTMR2 PLCB4 PLCE1 PTGS2	10855 23175 23600 2877 4051 51196 5332 5743 847 8898 9896	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS TLR2 VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 7097 8398 8434 960	Homo sapiens (human)
DOID:6873	skin tag Aliases: Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:2065	syringoma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)

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