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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
DisGeNET
Glyco-Disease Genes Database (GDGDB)

Displaying entries **7876 - 7900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)
DOID:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	Fut4 Fut7 Fut9	296564 60670 84597	Rattus norvegicus (Norway rat)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	303565	Rattus norvegicus (Norway rat)
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMUT	4594	Homo sapiens (human)
DOID:701	dentin dysplasia Aliases: Dentinal dysplasia	AKR1C1 AKR1C2 GALNT3 MMP25 TMEM165	1645 1646 2591 55858 64386	Homo sapiens (human)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	HXK1 HXK2 PGI1	850614 852495 852639	Saccharomyces cerevisiae S288C
DOID:0081312	T-cell non-Hodgkin lymphoma	IER3 TMEM260 TP53	54916 7157 8870	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	Gapdh Gsk3b Tnf Trp53	14433 21926 22059 56637	Mus musculus (house mouse)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga	100158632	Xenopus tropicalis (tropical clawed frog)
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:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	G6pd2 G6pdx Prkaa1 Pygm	105787 14380 14381 19309	Mus musculus (house mouse)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	algn-3	175065	Caenorhabditis elegans
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng.L lfng.S	100036937 397855	Xenopus laevis (African clawed frog)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1.S	446820	Xenopus laevis (African clawed frog)
DOID:0110502	autosomal recessive nonsyndromic deafness 45 Aliases: DFNB45 autosomal recessive deafness 45	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:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)
DOID:7849	dendritic cell sarcoma	SLC35B2	347734	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)

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