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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 **7101 - 7125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:11481	constrictive pericarditis	SMUG1	23583	Homo sapiens (human)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	361368	Rattus norvegicus (Norway rat)
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)
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:12895	keratoconjunctivitis sicca Aliases: KCS	Tnf	21926	Mus musculus (house mouse)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	sqv-2	173635	Caenorhabditis elegans
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	GBA1	2629	Homo sapiens (human)
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	GBA1	2629	Homo sapiens (human)
DOID:2957	pulmonary tuberculosis	Adipoq Akt1 Atf3 Gbe1 Tlr1 Tlr2 Tlr4 Tnf	11450 11651 11910 21897 21898 21926 24088 74185	Mus musculus (house mouse)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	Mus musculus (house mouse)
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	Htr2a	15558	Mus musculus (house mouse)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	362567	Rattus norvegicus (Norway rat)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ins	30262	Danio rerio (zebrafish)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	ALDH3A1 CD44 CEACAM5 FUCA1 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PTGS1 PTGS2 STT3A	1048 218 2517 27306 3703 5290 5291 5293 5294 5742 5743 960	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:5463	cochlear disease	Tnf	24835	Rattus norvegicus (Norway rat)

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