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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 **3101 - 3125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:0110791	hereditary spastic paraplegia 3A Aliases: FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease	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:14227	azoospermia	ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 496577	Xenopus tropicalis (tropical clawed frog)
DOID:0060567	erythema elevatum diutinum	CYP19A1	1588	Homo sapiens (human)
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	NAGA	4668	Homo sapiens (human)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD72 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CERS6 CHI3L1 CHST9 CLEC12A CNTFR COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 EBP EFNA5 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GAPDH GGT1 GML GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST4 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1RL1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LIPA LPL LSS MBL2 MOGS MTAP NAAA NAMPT NCAM1 NT5E PARP9 PGP PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PLCG2 PNP PNPLA3 PRKAA2 PRPS1 PTEN PTGS2 SACM1L SCD SELE SFTPD SHMT1 SLC27A5 SMUG1 SOAT1 SPHK2 ST8SIA6 UGT1A1 UMOD UNG	1012 10135 1048 1056 10584 10682 10855 1087 10998 1116 1271 1464 1543 1544 1545 1555 1557 1558 1571 1576 1577 160364 1604 1946 2026 2131 2271 22908 22914 231 23583 23659 248 250 2526 253782 2539 2571 2597 2678 27087 27163 27306 2765 28 2821 283871 2876 308 3098 3161 3251 3383 338596 3417 3418 3425 353 3635 3956 3958 3988 3992 4023 4047 4051 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 5336 54658 5563 55902 5631 56848 5728 5743 60495 6319 6401 6441 6470 6646 7369 7374 7841 80339 811 83539 83666 847 8644 8809 912 9173 929 933 945 9487 952 960 962 971 9951	Homo sapiens (human)
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	DCN FUCA1 GLA IDH1 IDH2 MANBA NAGA PTEN SMUG1	1634 23583 2517 2717 3417 3418 4126 4668 5728	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	alg8	548388	Xenopus tropicalis (tropical clawed frog)
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Fuca Gapdh1 Gapdh2 Tl	32545 35728 3772574 43222	Drosophila melanogaster (fruit fly)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:9409	diabetes insipidus	Has2	15117	Mus musculus (house mouse)
DOID:10952	nephritis	parp1	560788	Danio rerio (zebrafish)
DOID:11427	endosalpingiosis	OVGP1	5016	Homo sapiens (human)
DOID:0090077	hypogonadotropic hypogonadism 4 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)
DOID:11269	chronic apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	mogs-1	177998	Caenorhabditis elegans
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)
DOID:0110546	autosomal dominant nonsyndromic deafness 15 Aliases: DFNA15 autosomal dominant deafness 15	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:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)

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