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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 **5451 - 5475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)
DOID:0110235	cataract 2 multiple types Aliases: CTRCT2 cataract 2 multiple types with or without microcornea	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:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)
DOID:11037	dissociative amnesia Aliases: psychogenic amnesia	ABAT ACHE ALDH2 CD38 ELOVL6 FUT10 GAD1 GAD2 HSD11B1 NEU3 PARP1 PRKAA2 SUCLA2	10825 142 18 217 2571 2572 3290 43 5563 79071 84750 8803 952	Homo sapiens (human)
DOID:1770	toxic megacolon	SMC3	9126	Homo sapiens (human)
DOID:3196	cellular schwannoma Aliases: cellular Neurinoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	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:0110133	Bardet-Biedl syndrome 11 Aliases: BBS11	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:9946	steroid-induced glaucoma Aliases: Corticosteroid-induced glaucoma	PTGS2	5743	Homo sapiens (human)
DOID:0110268	cataract 22 multiple types Aliases: CTRCT22	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)
DOID:0080491	cerebral cavernous malformation 1	ACE B3GAT1 CEACAM5 CHI3L1 CYP2B6 GLO1 ICAM1 NCAM1 PTEN PTGIS PTGS2 STS	1048 1116 1555 1636 27087 2739 3383 412 4684 5728 5740 5743	Homo sapiens (human)
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 CEACAM5 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TP53	1048 207 23583 2530 5290 5291 5293 5294 5728 7157	Homo sapiens (human)
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	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)
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	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:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ACE AKT1 ALOX15 ALOX5 APEX1 BAD CAT CSPG4 CYP19A1 ENO2 FCN1 G6PD GCDH GFRA1 GPNMB GPX1 ICAM1 IL6ST LGALS1 LGALS3 MBL2 MDH2 NAMPT PARP1 PCNA PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PRNP PTGIS PTGS1 PTGS2 SELE SLC33A1 TLR4	10135 10457 142 1464 1588 1636 2026 207 2219 240 246 2539 2639 2674 283871 2876 328 3383 3572 3956 3958 4153 4191 5111 5290 5291 5293 5294 5321 5373 5621 572 5740 5742 5743 6401 7099 847 9197	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)

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