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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 **6151 - 6175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	245960	Rattus norvegicus (Norway rat)
DOID:0110209	Charcot-Marie-Tooth disease X-linked dominant 1 Aliases: CMT1X CMTX1 Charcot-Marie-Tooth neuropathy X-linked dominant 1 X-linked Charcot-Marie-Tooth disease type 1	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:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABO ACE ADIPOQ CAT CHIT1 COL9A2 CYP3A4 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TLR4	100507436 1118 1298 1576 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7099 847 9370 9663	Homo sapiens (human)
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	AKR1C3 CYP3A5 TP53	1577 7157 8644	Homo sapiens (human)
DOID:5463	cochlear disease	Tnf	21926	Mus musculus (house mouse)
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	498332	Rattus norvegicus (Norway rat)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Wdr5	362093	Rattus norvegicus (Norway rat)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ACE ACHE ACSBG1 ACSBG2 ADH1C ADH5 AKR1A1 AKR1B1 ALDH2 ALDH7A1 APRT ARSB CD14 CD1D CD38 CD44 CH25H CHAT CHI3L1 CHIT1 CHKB CHST3 COLGALT1 COMT CPT1B CYP1A2 CYP21A2 CYP2B6 CYP2C9 CYP2E1 CYP3A4 CYP4F2 DLAT EBP ECHS1 ELOVL1 ELOVL7 EPM2A FUT1 G6PD GAD2 GALNT14 GGT1 GLB1 GLUL GPAT2 GPC5 HADH HADHB HPGDS HS6ST3 HSD11B1 HSD17B4 HSPG2 ICAM1 IDH2 IDS IDUA L1CAM LPIN1 MAG MBL2 MBOAT2 MBOAT7 MDGA2 MGAT1 MGLL NAMPT NCAM1 NCAN NDST3 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLB1 PNPLA3 PRKAA2 PRNP PTEN RTN4R SGSH SIRT6 SLC17A5 SLC27A5 SPHK1 SPHK2 ST8SIA4 SUMF1	10135 10327 10682 10998 1103 1116 1118 1120 11343 126 128 129642 1312 1375 142 1463 150763 151056 1544 1555 1559 1571 1576 1589 161357 1636 1737 1892 217 2262 22925 231 23175 23205 2523 2539 2572 26503 266722 2678 2720 27306 2752 285362 3032 3033 3290 3295 3339 3383 3418 3423 3425 353 3897 4099 411 4153 4245 43 4684 501 51548 5290 5291 5293 5294 5563 5621 56848 5728 60506 6448 64834 65078 7903 79143 7957 79623 79709 79993 80339 81616 8529 8877 9023 912 929 9348 9469 952 960	Homo sapiens (human)
DOID:2691	myoma Aliases: benign neoplasm of the Muscle	CYP19A1 CYP2B6 HPSE	10855 1555 1588	Homo sapiens (human)
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Oas1a Tlr4	192281 29260	Rattus norvegicus (Norway rat)
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	FIG4	33658	Drosophila melanogaster (fruit fly)
DOID:4953	poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	cht-1 sqv-8	174517 180628	Caenorhabditis elegans
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	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:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Fkrp	308390	Rattus norvegicus (Norway rat)
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	pip	40104	Drosophila melanogaster (fruit fly)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)

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