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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 **2076 - 2100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	Mogs	57377	Mus musculus (house mouse)
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	ARSD B3GAT3 CHST3 CYP1B1 FUT8	1545 2530 26229 414 9469	Homo sapiens (human)
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	CYP17A1 CYP19A1	1586 1588	Homo sapiens (human)
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	Axn Calr Lerp N Plod Sdc	31293 37447 39265 41166 43223 43565	Drosophila melanogaster (fruit fly)
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	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:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	ACE CAT CYP4A11	1579 1636 847	Homo sapiens (human)
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	41867	Drosophila melanogaster (fruit fly)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	dhs-21	179741	Caenorhabditis elegans
DOID:0080491	cerebral cavernous malformation 1	ACE B3GAT1 CEACAM5 CHI3L1 CYP2B6 GLO1 ICAM1 NCAM1 PTEN PTGIS PTGS2 STS	1048 1116 1555 1636 27087 2739 3383 412 4684 5728 5740 5743	Homo sapiens (human)
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ins	30262	Danio rerio (zebrafish)
DOID:303	substance-related disorder	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 GSK3B HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 2932 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)
DOID:10974	oophoritis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	38374	Drosophila melanogaster (fruit fly)
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	MAPK14 SELP TNF	1432 6403 7124	Homo sapiens (human)
DOID:0050567	orofacial cleft	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:6432	pulmonary hypertension	ACE ALOX5 CD209 CYP1A1 CYP2J2 DCN ENO1 EPHX2 HAS1 HAS2 HAS3 HK1 HYAL1 HYAL2 ICAM1 LGALS3 NAMPT PDIA3 PLA2G7 PTGIS PTGS2 SLC2A4 SMPD3 TNF VCAM1	10135 1543 1573 1634 1636 2023 2053 240 2923 3036 3037 3038 30835 3098 3373 3383 3958 55512 5740 5743 6517 7124 7412 7941 8692	Homo sapiens (human)
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:2346	monoclonal paraproteinemia Aliases: Monoclonal paraproteinaemia	CD38 HAS1 MAG NCAM1 PRSS21 SDC1	10942 3036 4099 4684 6382 952	Homo sapiens (human)
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)

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