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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 **801 - 825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060072	benign neoplasm	Dlg1 Dlg2 Dlg4 Lats1	13383 13385 16798 23859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080447	developmental and epileptic encephalopathy 43 Aliases: DEE43 early infantile epileptic encephalopathy 43	Gabrb3	24922	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050338	primary bacterial infectious disease	bli-3 duox-2 grd-1 grd-2 wrt-6	171608 180349 180638 181300 186188	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111854	primary ciliary dyskinesia 39 Aliases: CILD39 primary ciliary dyskinesia 39 with or without situs inversus	LRRC56	115399	Homo sapiens (human)	Alliance of Genome Resources
DOID:13139	crescentic glomerulonephritis	Ccl2 Csf1r Fcgr3 Il1rn Jund Mmp12 Mmp9 Mtor	12978 14131 16181 16478 17381 17395 20296 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	Fcgr2a Fcgr2al1 Fcgr2b	116591 289211 498276	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	Egfr Octbeta2R	37455 41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	Egfr N spi	31293 35253 37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	EMI2 GLK1 HXK1 HXK2 YBT1	850317 850614 850678 852128 852639	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	RSP5	856862	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080615	nephroma Aliases: benign nephroma	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Acer Ance Glyp Mdr49 Mdr65 Oatp74D Zw l(2)03659	32974 33386 34189 34805 36428 38726 39954 47905	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	Atp6v0a1	29757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	Adgrg2	266735	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	DHX37	57647	Homo sapiens (human)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ICAM1 IL6 KEAP1 MTOR	2475 3383 3569 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	NALCN	259232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	BUD2 SIN3 SMY2 SNT1 SYH1	850399 852470 853770 854158 855999	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	58946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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