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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 **4376 - 4400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:1931	hypothalamic disease	AMY1A AMY1B AMY1C APRT CAT CYP17A1 CYP19A1 HPGDS L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1586 1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:13477	balanitis xerotica obliterans Aliases: Penile Lichen Sclerosus	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:10126	keratoconus Aliases: conical cornea	ADH1B ALDH3A2 CA4 CAT CLC DHDDS ENO1 GALNT14 GPX1 HGSNAT HKDC1 HPSE ICAM1 IDH3A IDH3B LGALS1 LGALS3 NEIL1 NT5E PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 SFTPA1 SLC2A10 UGCG	10855 1178 125 138050 142 2023 224 2876 3383 3419 3420 3956 3958 4907 5130 5290 5291 5293 5294 55624 653509 7357 762 79623 79661 79947 80201 81031 847	Homo sapiens (human)
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:12265	chronic salpingo-oophoritis Aliases: chronic salpingitis and oophoritis chronic salpingitis/oophoritis	MSLN	10232	Homo sapiens (human)
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	KLRK1 MICA SMUG1 TLR2	100507436 22914 23583 7097	Homo sapiens (human)
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0090076	hypogonadotropic hypogonadism 18 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:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	Akt1 Bad Tnf	24185 24835 64639	Rattus norvegicus (Norway rat)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	PIK3CA SMUG1	23583 5290	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	Lrp5	16973	Mus musculus (house mouse)
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	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:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Axn N	31293 43565	Drosophila melanogaster (fruit fly)
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ATG26 CTS2 IDP2 IDP3	850871 850886 851977 855723	Saccharomyces cerevisiae S288C
DOID:2913	acute pancreatitis	Lep	16846	Mus musculus (house mouse)
DOID:0080161	cutaneous candidiasis	PSAP	5660	Homo sapiens (human)
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	IDUA	3425	Homo sapiens (human)

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