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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 **5526 - 5550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	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:1591	renovascular hypertension	ACE FIG4 G6PD PKD1 PTGS1 PTGS2 SLC33A1 TM7SF2	1636 2539 5310 5742 5743 7108 9197 9896	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:8867	molluscum contagiosum	TLR2	7097	Homo sapiens (human)
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	ABO CALR CYP1A1 CYP2E1 CYP3A5 ENO1 MICA PTGS2 TM7SF2 TP53	100507436 1543 1571 1577 2023 28 5743 7108 7157 811	Homo sapiens (human)
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:3010	lobular neoplasia Aliases: Lobular Intraepithelial Neoplasia lobular carcinoma in situ	CYP2B6 CYP2C19 EPHX2 FUCA1 HPRT1 PTGS2 SMUG1	1555 1557 2053 23583 2517 3251 5743	Homo sapiens (human)
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	LGALS1 PRNP	3956 5621	Homo sapiens (human)
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CAT CNTN3 GAD1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP	2571 5067 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)
DOID:2170	vaginitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:1455	geographic tongue Aliases: Glossitis areata exfoliativa Pityriasis linguae benign migratory glossitis	FCN2 HPGDS PIK3CA PTEN SDHB SDHC SDHD	2220 27306 5290 5728 6390 6391 6392	Homo sapiens (human)
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)
DOID:14320	generalized anxiety disorder	ACACA ACE ACHE ACSL4 ADH1B AKR1C1 AKR1C3 ALDH2 ALDH5A1 ALOX15 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSG ARSI B3GAT1 CAT CHGA CNTN3 COMT CPM CYP17A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS FIG4 GAD1 GAD2 GALNS GCK GLA GLO1 GLT8D1 GM2A GOLPH3 GPNMB HPSE HS6ST1 HSD11B2 HSPG2 INPP5K LGALS3 LIPA LYPD6 MGLL MPI NANS NDST3 NT5E OCRL PAFAH1B1 PARP1 PC PCCB PCYT1A PIK3CA PMM2 PRNP PTEN PTGS2 SDHD SIRT6 SLC33A1 SLC35C1 SMC3 SMPD1 SMUG1 SPHK1 SRD5A1 STS TMED9 UGT2B15 UMOD	10457 10855 1113 11343 125 130574 1312 1368 142 1543 1544 1555 1557 1571 1586 1636 1645 2023 217 2182 2224 22901 23583 246 249 2571 2572 2588 2645 27087 2717 2739 276 2760 277 278 31 3291 3339 340075 3958 3988 410 412 414 43 4351 4907 4952 5048 5067 5091 5096 5130 51548 51763 5290 5373 54187 54732 55343 55830 5621 5728 5743 6392 64083 6609 6715 7366 7369 7915 847 8644 8877 9126 9197 9348 9394 9896	Homo sapiens (human)
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	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:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	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:0080365	endometrial hyperplasia	AKR1C1 AKR1C3 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 HSD17B7 MRC1 PIK3CA PKM PNPLA2 PTEN PTGS2 STS SULT1E1 TFF1	1312 1543 1583 1586 1588 1645 412 4360 51478 5290 5315 57104 5728 5743 6783 7031 8644 9469	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)

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