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GlyCosmos Diseases

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

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

Displaying entries **3051 - 3075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050427	xeroderma pigmentosum	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0110053	amelogenesis imperfecta type 4 Aliases: AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	ACACA ACE ACOT7 ACSL6 BCKDHB CD38 COMT CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP2C19 CYP7A1 GALT HACD1 HSD17B4 IGF2R KL LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN PTGES XPNPEP2	11332 1312 1543 1555 1557 1581 1586 1588 1636 23305 2592 31 3295 3482 3956 5290 5291 5293 5294 5321 5373 5728 594 7512 9200 9365 952 9536	Homo sapiens (human)
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	DGAT1 UGT1A1	54658 8694	Homo sapiens (human)
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	CD44 CEACAM5 CEACAM7 CYP17A1 CYP1A1 CYP2C19 IDH1 IDH2 MTAP NEU1 PIK3CA PIK3CB PIK3CD PIK3CG PPARD PTEN PTGS2 SMUG1 SPHK1 UGT1A1	1048 1087 1543 1557 1586 23583 3417 3418 4507 4758 5290 5291 5293 5294 54658 5467 5728 5743 8877 960	Homo sapiens (human)
DOID:8651	Hodgkin's granuloma Aliases: Hodgkin granuloma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SLC35B2 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 347734 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT TALDO1	6888 847	Homo sapiens (human)
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ABO ACE ACSM3 CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GAD1 GAD2 GCDH GLA GLUL GOT1 GPX1 GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PCNA PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGIS PTGS1 PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1 TNF UCP2	10135 1119 142 1557 1636 1718 2219 2539 2571 2572 2639 2717 2752 28 2805 2876 2878 3383 4056 4968 4973 5111 51548 5277 5290 5291 5293 5294 55512 5728 5740 5742 5743 6296 6402 6403 6783 7124 7351 7941 811 847 90411 972	Homo sapiens (human)
DOID:2457	giant papillary conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ACHE ALDH1A3 ALOX5 ALPL ARSA B3GAT1 CAT CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 G6PD GAPDH GPX1 HPGDS HPRT1 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NCAM1 NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRNP PTEN PTGDS PTGS1 PTGS2 SCP2 SDHB SDHC SDHD SIGLEC7 SMUG1 SOAT1 STS TIPARP TMEM165 TNKS VCAN	10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2539 2597 25976 27036 27087 27306 2876 3251 3417 3418 3939 3956 3958 4051 410 412 43 4594 4595 4684 4907 4913 5290 5291 5293 5294 5319 5320 5329 55858 5621 5728 5730 5742 5743 6342 6390 6391 6392 64386 6646 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)
DOID:0050793	short QT syndrome	CACNA2D1 KCNQ1	3784 781	Homo sapiens (human)
DOID:12859	choreatic disease Aliases: chorea hereditary chorea	ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 23583 2760 3340 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	ACE APRT CALR3 GLA GNS HGSNAT ICAM1 NAGLU PKD1 PNPLA3 PRKAA2 SGSH	125972 138050 1636 2717 2799 3383 353 4669 5310 5563 6448 80339	Homo sapiens (human)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:5845	anterolateral myocardial infarction	ACE CAT LGALS3 SLC2A4	1636 3958 6517 847	Homo sapiens (human)
DOID:13777	epidermodysplasia verruciformis	FCGR3B PTEN PTGS2 SCD SDCBP2 STS STT3A TM7SF2	2215 27111 3703 412 5728 5743 6319 7108	Homo sapiens (human)
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC17A5 SLC33A1 SORD	1593 2262 2584 26503 2651 4047 4952 501 51084 51763 5290 5291 5293 5294 55750 5728 6652 9197	Homo sapiens (human)
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	ABO ACACB ACADM ACE AKR1A1 ALDH2 CAT CD14 CRYL1 ENO1 FCN1 GM2A ICAM1 LGALS2 MBL2 NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTGS2 SELE SELL SFTPC SORD TLR1 TLR2 TLR4 TLR6 TNF	10327 10333 142 1636 2023 217 2219 2760 28 32 3383 34 3957 4153 4684 51084 5290 5291 5293 5294 5329 5743 6401 6402 6440 6652 7096 7097 7099 7124 847 929	Homo sapiens (human)

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