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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 **1426 - 1450** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)
DOID:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	ICAM1 PIK3CA PIK3CD PIK3CG PTEN VCAM1	3383 5290 5293 5294 5728 7412	Homo sapiens (human)
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	ABO ACE ACSL5 ACSS2 ADH7 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALOX5 ANXA5 APRT ATP6AP2 BAAT BRAF BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENO2 ENOSF1 EPM2A EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI GSK3B HAS1 HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 OVGP1 PARP1 PDIA3 PGAM2 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS1 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIGLEC1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TFF1 TMTC1 TNFRSF10C TNKS2 TP53 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 2026 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 2932 3036 308 3161 3283 3284 3292 3294 3295 3373 3417 3482 353 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 5016 51363 51478 51548 51703 5224 5230 5290 5291 5293 5294 5315 5319 5320 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 5728 5742 5743 6319 6382 6390 6391 6392 64083 6515 6517 6614 6646 6677 6716 673 6783 6820 684 7031 7157 7364 7367 79154 7957 79679 79947 80142 80351 811 8372 83857 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:0110900	inflammatory bowel disease 2 Aliases: IBD2	GALM	130589	Homo sapiens (human)
DOID:3213	demyelinating disease Aliases: demyelinating disorder	ARSA CD1D FIG4 GALC GPC5 HPRT1 ICAM1 KL LGALS3 MAG PTGS2	2262 2581 3251 3383 3958 4099 410 5743 912 9365 9896	Homo sapiens (human)
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0050541	Charcot-Marie-Tooth disease type 4 Aliases: hereditary motor and sensory neuropathy	FIG4 MAG MTM1 MTMR2	4099 4534 8898 9896	Homo sapiens (human)
DOID:9888	alternating esotropia	COG8	84342	Homo sapiens (human)
DOID:0050905	inflammatory myofibroblastic tumor	ACE AMACR IL1R1 PIK3CA PTGS2 SMUG1	1636 23583 23600 3554 5290 5743	Homo sapiens (human)
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	ATP6AP1 CEL CTNS HPGDS HSD17B6 OGG1	1056 1497 27306 4968 537 8630	Homo sapiens (human)
DOID:12574	posterior uveitis Aliases: Uveitis, posterior	ACE ICAM1	1636 3383	Homo sapiens (human)
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	ACE AKT1 ARSA CD14 CHGA CHI3L1 CYP2C19 ICAM1 IL18R1 LGALS3 MBL2 PARP1 PLA2G1B PLB1 PTEN PTGS2 SELP SULT1E1	1113 1116 142 151056 1557 1636 207 3383 3958 410 4153 5319 5728 5743 6403 6783 8809 929	Homo sapiens (human)
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP2B6 CYP2C19 CYP2C9 EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB HS6ST1 HSPG2 IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3425 3955 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 79158 79796 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	A4GALT ACHE CAT CLEC10A FUT1 FUT4 PARP1 PLA2G2A PTGS2 RTN4R SPTLC2	10462 142 2523 2526 43 5320 53947 5743 65078 847 9517	Homo sapiens (human)
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	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:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	ABO AGPS CD55 FCER2 IDS MOGS NT5E PIK3CD PNP SLC17A5	1604 2208 26503 28 3423 4860 4907 5293 7841 8540	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)
DOID:0110137	Bardet-Biedl syndrome 15 Aliases: BBS15	INPP5E PIGX	54965 56623	Homo sapiens (human)

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