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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9276 - 9300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	Smarca4	20586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070398	hypomyelinating leukodystrophy 15 Aliases: HLD15	EPRS1	2058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	EPOR	2057	Homo sapiens (human)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ABCB1 CCL2 EPOR G6PD GABRA1 GABRB1 GABRG2 GC GLUD1 GLUD2 GRIA1 HIF1A INSR NOS1 NOS2 PTGS1	2057 2539 2554 2560 2566 2638 2746 2747 2890 3091 3643 4842 4843 5243 5742 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	BDKRB1 CCL2 CD28 CD40LG EPO F3 FAS FASLG FN1 GP1BA GPX1 HLA-DRB1 ICAM1 IL1RN ITGAM MMP14 NOS2 NOS3 PLAT PON1 RBP4 SERPINE1 SOD1 SOD2 SPARC TNF VEGFA	2056 2152 2335 2811 2876 3123 3383 355 3557 356 3684 4323 4843 4846 5054 5327 5444 5950 623 6347 6647 6648 6678 7124 7422 940 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 ALAS1 EPO GBE1 IREB2	2056 211 2632 3658 48	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	Slc9a1	20544	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	Slc7a7	20540	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	Slc7a5	20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050872	large cell neuroendocrine carcinoma	Slc7a5	20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4897	bile duct carcinoma	Msln Slc7a5	20539 56047	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	Slc7a5 Stat3	20539 20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	Slc6a2	20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110919	hereditary spherocytosis type 4 Aliases: HS4 SPH4 hereditary spherocytosis 4	Slc4a1	20533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	Slc4a1	20533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	Slc4a1 Spta1	20533 20739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	20532	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	Slc34a2	20531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	Slc2a3 Tbc1d4	20527 210789	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090044	dystonia 9	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources

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