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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 **426 - 450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080941	acquired angioedema	F12 F2 F7 Xpnpep2	14061 14068 170745 58992	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081137	agammaglobulinemia 3	Cd79a	12518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	clh-1	174821	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	rft-2	178842	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	Bdnf	24225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	Nup62 Vac14	18226 234729	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	AP3B2	8120	Homo sapiens (human)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	Slc12a6	107723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050958	spinocerebellar ataxia type 7	ATXN7 ATXN7L1	222255 6314	Homo sapiens (human)	Alliance of Genome Resources
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	comta comtb mstnb	561372 565370 798441	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	FAM20C PHEX	5251 56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	acr-15 acr-16 acr-7 eat-2	174262 175072 179235 191602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	ABCB1 ADA2 ADIPOQ AKT1 ALOX5 ATF3 C3 CCL1 CCL2 CCL5 CCR5 CD14 CD163 CD1D CD209 CD274 CD36 CD86 CLEC4M EGFR EREG GBE1 HAVCR2 HLA-DPB1 HLA-DQB1 HLA-DRB1 IL13 IL15 IL1RN IL4R IL6 IL6R ITIH4 JUN KIR3DS1 LTA MARCO MBL2 MIF NOD2 NOS2 PDCD1 PDCD1LG2 PLAUR SFTPA1 SLC11A1 TAP1 TLR1 TLR2 TLR4 TLR9 TNF TREM1	10332 1234 1956 2069 207 240 2632 29126 30835 3115 3119 3123 3557 3566 3569 3570 3596 3600 3700 3725 3813 4049 4153 4282 467 4843 5133 51816 5243 5329 54106 54210 6346 6347 6352 64127 653509 6556 6890 7096 7097 7099 7124 718 80380 84868 8685 912 929 9332 9370 942 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ABCB1 ACTB ADD1 AGT AK2 AQP4 AVP AZGP1 CACNA1A CDC42 CRHBP CXCR4 CYFIP1 DBN1 DTNBP1 FOS FOXO3 GDNF GLUD1 GLUD2 GLUL GRIK5 GRIN2B GRM1 HCN1 HDAC2 KCNA1 KCNN4 MAP2 MAPT MBP MMP9 MTOR NOS1 NPY1R NPY2R NTRK2 PGF PRICKLE1 PTPRZ1 RASGRF1 RELN RGMA SHH SLC32A1 SLC6A1 VDAC2	118 1393 140679 144165 1627 183 204 2309 23191 2353 2475 2668 2746 2747 2752 2901 2904 2911 3066 348980 361 3736 3783 4133 4137 4155 4318 4842 4886 4887 4915 5228 5243 551 563 5649 56963 5803 5923 60 6469 6529 7417 773 7852 84062 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	FEZF1	389549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	688673 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070066	autosomal dominant intellectual developmental disorder 36 Aliases: MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36	PPP2R1A	5518	Homo sapiens (human)	Alliance of Genome Resources

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