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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 **3701 - 3725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	C29E4.10	183002	Caenorhabditis elegans
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	ACADM CPT1A CPT2 HSD17B4 PFKM PGAM2	1374 1376 3295 34 5213 5224	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	37754	Drosophila melanogaster (fruit fly)
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL G6PC1 GAA GBE1 GYS2 PYGL	178 2538 2548 2632 2998 5836	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:11476	osteoporosis	Igf2 Lep Lepr Myc Pcna	24483 24536 24577 25608 25737	Rattus norvegicus (Norway rat)
DOID:114	heart disease	PGI1	852495	Saccharomyces cerevisiae S288C
DOID:8654	Hodgkin's lymphoma, mixed cellularity Aliases: Hodgkin's disease, mixed cellularity	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SLC35B2 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 347734 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:4305	bone giant cell tumor Aliases: Giant cell neoplasm of bone Giant cell tumor of bone Giant cell tumour of bone bone giant cell tumour	CD14 CTSA DCN GPX1 IDH2 PLAUR	1634 2876 3418 5329 5476 929	Homo sapiens (human)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ARSB CA4 CYP11B1 CYP11B2 DCN FCN2 FKTN FUT4 GPX1 ICAM1 IDS ISYNA1 KLRB1 KLRK1 LGALS3 LGALS9 NCAM1 PTGS2 SLC17A5 SLC2A10 SMUG1	1584 1585 1634 1636 2218 2220 22914 23583 2526 26503 2876 3383 3423 3820 3958 3965 411 4684 51477 5743 762 81031	Homo sapiens (human)
DOID:0110139	Bardet-Biedl syndrome 17 Aliases: BBS17	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	BST1 HSD11B1 TLR4 VTCN1	3290 683 7099 79679	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 447881 563897 566487	Danio rerio (zebrafish)
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)
DOID:0060719	autosomal recessive congenital ichthyosis 10 Aliases: ARCI10	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	ACACA ACE ACOT7 ACSL6 BCKDHB CD38 COMT CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP2C19 CYP7A1 GALT HACD1 HSD17B4 IGF2R KL LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN PTGES XPNPEP2	11332 1312 1543 1555 1557 1581 1586 1588 1636 23305 2592 31 3295 3482 3956 5290 5291 5293 5294 5321 5373 5728 594 7512 9200 9365 952 9536	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	Gsk3b	56637	Mus musculus (house mouse)
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	CD14 FCGR3B	2215 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)

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