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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 **3651 - 3675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	ABO ACE CHIT1 COL9A2 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TNF	100507436 1118 1298 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7124 9663	Homo sapiens (human)
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:0081292	traumatic brain injury	BAD TP53	572 7157	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:2834	acquired polycythemia Aliases: Polycythemia, secondary secondary polycythemia	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)
DOID:7910	maxillary sinus squamous cell carcinoma Aliases: Epidermoid carcinoma of the Maxillofacial sinus	LDHB MICA PNP	100507436 3945 4860	Homo sapiens (human)
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	ACO2	50	Homo sapiens (human)
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	CAT PIK3CA PIK3CB PIK3CD PIK3CG PTEN SPHK2	5290 5291 5293 5294 56848 5728 847	Homo sapiens (human)
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	ABO ACE ADPRH ALDH7A1 ANXA5 APRT ART5 CD44 CD55 CTBS CYP11A1 CYP19A1 CYP27A1 CYP2B6 ENO1 GLB1 GOLPH3 HSD17B1 ICAM1 NAGLU NT5E PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRG2 PRSS8 PTEN SLC5A1 STS TM7SF2 XYLT2	116969 141 1486 1555 1583 1588 1593 1604 1636 2023 2720 28 308 3292 3383 353 412 4669 4907 501 5290 5291 5293 5294 5553 5652 5728 64083 64132 6523 7108 9468 960	Homo sapiens (human)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE ACSS2 ASAH2 CD44 CHPT1 CHST14 CYP2C19 CYP2E1 DCN DHDDS DSEL ECI1 FREM1 FUT3 GPC3 GPI HTR2A ICAM1 IGF2 IGF2R LFNG NDST1 PGAP3 PIGN PIGW PLA2G15 PMM2 SDHA SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10 SMC3 TM7SF2 TNF VCAM1	113189 1557 1571 158326 1632 1634 1636 23556 23659 2525 2719 2821 284098 3340 3356 3383 3481 3482 3955 5373 55902 56624 56994 6389 6440 6441 653509 7108 7124 729238 7412 79947 81031 9126 92126 93210 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:7165	subacute thyroiditis Aliases: De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1 PLOD3	2678 8985	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	ARSA GLB1 GM2A HEXA HEXB HEXD OGA UGCG	10724 2720 2760 284004 3073 3074 410 7357	Homo sapiens (human)
DOID:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	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:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0080033	craniometaphyseal dysplasia	ACE CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 1605 1636 2218 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)
DOID:1770	toxic megacolon	SMC3	9126	Homo sapiens (human)

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