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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 **3476 - 3500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:6873	skin tag Aliases: Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	Homo sapiens (human)
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	ACADVL HADHA OTOA	146183 3030 37	Homo sapiens (human)
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	AKR1C3 APRT CD44 CD55 CDH13 CYP21A2 FUT1 GLB1 HPGDS HSD11B2 INPP5A MMUT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SDC1 SDC2 SIRT6 SMUG1 SOAT1 SPHK2 ST3GAL1 STT3A	1012 1589 1604 23583 2523 2720 27306 3291 353 3632 3703 4594 4684 51548 5290 5291 5293 5294 56848 5728 5730 5743 6382 6383 6482 6646 8644 960	Homo sapiens (human)
DOID:701	dentin dysplasia Aliases: Dentinal dysplasia	AKR1C1 AKR1C2 GALNT3 MMP25 TMEM165	1645 1646 2591 55858 64386	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:9988	tertiary neurosyphilis Aliases: late neurosyphilis	SMUG1	23583	Homo sapiens (human)
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 CEACAM5 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TP53	1048 207 23583 2530 5290 5291 5293 5294 5728 7157	Homo sapiens (human)
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH1B1 ALDH5A1 GPLD1	219 2822 7915	Homo sapiens (human)
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:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	GMPPA SGPL1	29926 8879	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)
DOID:0090020	split hand-foot malformation Aliases: lobster-claw deformity split-hand deformity	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	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:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 FAR2 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1 TLR2 TLR4	1636 27159 27306 3383 38 3931 3958 4351 5067 55711 5730 5743 6441 64834 6646 6785 7097 7099 9104	Homo sapiens (human)
DOID:2598	laryngeal benign neoplasm Aliases: laryngeal tumor larynx neoplasm neoplasm of larynx	ACACA ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2E1 DCN GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTGS2 SHMT1 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN	10327 125 126 128 131 1462 1543 1545 1571 1634 1636 217 23583 23659 2597 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5743 6470 6515 6783 847 8473 8821 929 960	Homo sapiens (human)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	CEL EHHADH GCK HADH HAO1 HAO2 HK2 HK3 HKDC1 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3099 3101 4351 51179 5236 5373 54363 80201 8050	Homo sapiens (human)
DOID:0110507	autosomal recessive nonsyndromic deafness 5 Aliases: DFNB5 autosomal recessive deafness 5	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:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)

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