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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 **3476 - 3500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:950	dacryoadenitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)
DOID:9409	diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:12400	kleptomania Aliases: Pathological stealing	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	ALG5 GANAB PKD1 PKD2 PLA2G4A PTGS1 PTGS2 XYLT2	23193 29880 5310 5311 5321 5742 5743 64132	Homo sapiens (human)
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	ACE CALR CAT	1636 811 847	Homo sapiens (human)
DOID:13100	intracranial vasospasm	ABO ACSM3 PTGS1	28 5742 6296	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ABO ACACA ACE ALOX12 ANXA7 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 310 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	GAD1 HSD3B1 HSD3B2 LPL SRD5A1 SRD5A2	2571 3283 3284 4023 6715 6716	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:9153	variola minor Aliases: Alastrim cottonpox milkpox whitepox	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)
DOID:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)
DOID:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	Homo sapiens (human)
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	CHGA CNTN3 CYP19A1 GAPDH HSD17B7 KLRK1 LGALS3 MACROD1 MGAM PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 QTRT1 SDHA SDHB SI	1113 1588 22914 2597 28992 3958 5067 51478 5290 5291 5293 5294 5743 6389 6390 6476 81890 8972	Homo sapiens (human)
DOID:14159	obstructive hydrocephalus	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NANS NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 54187 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	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:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	ABO ACHE ACSM3 ADH1A AKR1A1 ALDH1A3 ALOX5 ARSA ASAH1 B3GALNT1 BST2 CA4 CACNA2D2 CAT CD248 CD38 CD44 CD48 CD74 CHPT1 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 DAG1 DCN DHCR24 ENO2 ENPP1 EXTL3 FASN FDPS FUT4 G6PD GFPT1 GFRA1 GLB1 GLUL GNS GPNMB HK1 HK2 HMMR HPGDS HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RAPL1 L1CAM L2HGDH LDHA LGALS3 MGAT5B MMP25 MRC1 NCAM1 NDUFAB1 NT5E OPCML PARP1 PCYT1A PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR POMT1 PRG3 PSMD10 PTEN PTGDS PTGS2 RTN4R SELL SLC2A3 SLC37A4 SMUG1 SOAT1 SPTLC1 ST3GAL3 ST6GAL1 STS SULF1 SULF2 SULT1E1 TM7SF2 TNKS UGT8 VCAN	10327 10394 10457 10558 10585 10855 11141 124 142 1462 1464 146664 1543 1545 1559 1571 1586 1588 1605 1634 1718 2026 2137 2194 220 2224 23213 23583 240 2526 2539 2542 2673 2674 2720 27306 2752 2799 28 3098 3099 3161 3383 3417 3418 3425 3482 3897 3939 3958 410 412 427 43 4360 4684 4706 4907 4978 5130 5167 5230 5290 5291 5293 5294 5315 5329 55959 56994 57124 5716 5728 5730 5743 6296 6402 64386 6480 6487 65078 6515 6646 6783 684 7108 7368 762 79944 847 8658 8706 9254 952 960 962 972	Homo sapiens (human)
DOID:12043	kernicterus due to isoimmunization	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)

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