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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 **5476 - 5500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1829	urethral stricture	ARSA	410	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PARP1 PKD1 PPT1 PPT2 PSAP SCP2	1203 142 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:11432	endometriosis of ovary Aliases: ovarian endometriosis	AKR1B1 AKR1C1 AKR1C2 AKR1C3 CD44 CD55 CPM CYP19A1 CYP1A1 CYP2B6 ENPP1 ENPP3 GPX3 HS3ST3B1 HSD17B1 HSD17B2 ICAM1 IL1R1 IMPA2 NT5E PLA2G2A PSMD10 PTEN PTGS2 SMPDL3A SRD5A1 SRD5A2 SUCLG2 SULF2 TYMP UST VCAM1 VCAN	10090 10924 1368 1462 1543 1555 1588 1604 1645 1646 1890 231 2878 3292 3294 3383 3554 3613 4907 5167 5169 5320 55959 5716 5728 5743 6715 6716 7412 8644 8801 960 9953	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:5003	eunuchism	B4GALNT1 CD44 CD55 CTNS CYP2R1 G6PC3 HS6ST1 NT5E SEMA7A STS	120227 1497 1604 2583 412 4907 8482 92579 9394 960	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	ACE ADH5 ALOX5 APRT ARSA B3GAT1 CAT CD14 CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 FASN FCN1 FOLR2 FUT7 FUT8 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MASP2 MBL2 MGLL NCAM1 NDST1 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC12 SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS SULT1E1 TMED5 TPI1 VCAM1	10747 10855 10858 1103 1113 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 2194 2219 22914 22918 23193 2350 23583 240 2529 2530 253782 2597 2645 27087 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4153 4684 4907 50999 51477 51548 5290 5291 5293 5294 5315 5319 5320 5321 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 6783 7087 7167 7412 8398 847 8482 8560 8694 8877 89858 9023 912 929 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	COL9A2 G6PD GPX1 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 2876 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)
DOID:3137	obsolete multiple symmetrical lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)
DOID:11577	Cauda equina syndrome	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)

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