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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 **5576 - 5600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	ABO ACACA ACE ALOX12 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 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:11516	hypertensive heart disease	ACE CYP11B2 SLC33A1	1585 1636 9197	Homo sapiens (human)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	CD14 CYP3A4 LYZ PCNA PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 UCP2 VCAM1	10908 1576 4069 5111 5290 5291 5293 5294 7351 7412 929	Homo sapiens (human)
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CAT CEL G6PD PARP9 PLB1 SLC27A5	1056 10998 151056 2539 83666 847	Homo sapiens (human)
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	CD44 CHST3 CYP11A1 CYP19A1 LPL PTGS2	1583 1588 4023 5743 9469 960	Homo sapiens (human)
DOID:3086	gingival overgrowth Aliases: Gingival enlargement	AGA CYP2C9 DHCR24 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 1718 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)
DOID:8368	chordoid meningioma Aliases: meningioma, chordoid	PTEN	5728	Homo sapiens (human)
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:4514	thyroid angiosarcoma Aliases: hemangiosarcoma of the Thyroid	PTGS2	5743	Homo sapiens (human)
DOID:2474	vernal conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	IDS	3423	Homo sapiens (human)
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:3021	acute kidney failure	ACE ALOX5 BAD CD44 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DGKE EPHX2 G6PD GPNMB GPX3 HEXB HPRT1 ICAM1 LGALS3 LPIN1 PKD2 PTGS2 TLR4 UGT1A1 UGT1A9	10457 1557 1559 1571 1594 1636 2053 23175 240 2539 2878 3074 3251 3383 3958 5311 54600 54658 572 5743 7099 8526 960	Homo sapiens (human)
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ANXA5 ARSD ASAH2 ATP6AP2 B3GAT1 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEACAM5 CEL CHI3L1 CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT EBP ENO1 ENO2 ENO3 EXT1 EXT2 FASN FCER2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYPLA1 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MLYCD MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PARP9 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 SCD SDC1 SELL SELP SIGLEC1 SLC27A5 SLC35B2 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 10434 1048 1056 10682 10747 10855 10998 11141 1116 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2194 2208 2215 2219 2220 2271 22914 22925 23205 23274 23417 2350 23583 2517 2519 2523 2524 2542 2571 2572 2597 2645 27087 2719 27306 2752 28 2821 2876 29071 308 3098 3161 3251 3339 3383 347734 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5336 5337 5563 56624 56848 56913 57124 57126 5716 5728 5743 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 83666 847 8505 8807 8809 8877 912 9173 929 933 952 960 962 972 9993	Homo sapiens (human)
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)
DOID:6741	bilateral breast cancer Aliases: Bilateral breast carcinoma	ABO CRLS1 CYP19A1 GALNT12 PTEN SDHB	1588 28 54675 5728 6390 79695	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:0060278	pontocerebellar hypoplasia type 9	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 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 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	CALR CANX NAGLU	4669 811 821	Homo sapiens (human)
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	PIK3CA	5290	Homo sapiens (human)
DOID:0060247	Smith-McCort dysplasia	AKR1C4 KL PTEN VCAN	1109 1462 5728 9365	Homo sapiens (human)
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)

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