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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 **5701 - 5725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	ANXA5 CD22 CD44 CHI3L1 CNTN2 LGALS1 LGALS9 MBL2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCG1 PTEN PTGS2 SDC4 SELL SIRT2 SOAT1 TIGAR	1116 22933 308 3956 3965 4153 4507 4684 5290 5291 5293 5294 5315 5335 57103 5728 5743 6385 6402 6646 6900 933 960	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:12337	varicocele Aliases: Scrotal varices	CAT CHPT1 DHDDS FASN HPGDS LYPD5 MGLL OGG1 PIK3CA PTEN	11343 2194 27306 284348 4968 5290 56994 5728 79947 847	Homo sapiens (human)
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)
DOID:11981	morbid obesity Aliases: Severe obesity	ACACB ACE ACHE ACSS2 ATP6AP2 BAAT CNTN3 CPT1B CYP2E1 ENPP1 FDFT1 GAD2 GGT1 GHRL GPX1 LPIN1 LPL MRC1 NAMPT NCAN PFKFB3 PNPLA3 SCD SLC2A4 TKTL1	10135 10159 1375 1463 1571 1636 2222 23175 2572 2678 2876 32 4023 43 4360 5067 5167 51738 5209 55902 570 6319 6517 80339 8277	Homo sapiens (human)
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	CEACAM5 CEACAM7 FUT4 HAS1 PIK3CA PTEN PTGS2 SDC1 SMUG1	1048 1087 23583 2526 3036 5290 5728 5743 6382	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	GBA1	2629	Homo sapiens (human)
DOID:0110718	Warburg micro syndrome 3 Aliases: Micro Syndrome 3 WARBM3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	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:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:0080534	myxofibrosarcoma Aliases: fibromyxoid sarcoma	CD44 CHSY1 DCN	1634 22856 960	Homo sapiens (human)
DOID:8645	subacute delirium	ACHE ACSS2 COMT CYP3A5 ENO2 FCGR3B FIG4 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 SOAT1 UGCG	1312 1577 2026 2215 23659 3958 43 5290 5291 5293 5294 55902 6646 7357 9896	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS FAR1 GNPAT	84188 8443 8540	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)

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