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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 **1851 - 1875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	Duox2 G6pd	24377 79107	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	K09E4.4	175063	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081372	lacrimoauriculodentodigital syndrome 3 Aliases: Lacrimo-auriculo-dento-digital syndrome 3	Fgf10	25443	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	Mpz Pmp22	17528 18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111741	X-linked deafness 5 Aliases: AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	csa-1	174474	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	Fgf8 Igf2 Insr Pdgfb Pdgfrb Timp3	14179 16002 16337 18591 18596 21859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	Homo sapiens (human)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	tor	35717	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM1 DNM2	1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	YBT1	850678	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2m Ace Apob Apoc3 Cd2ap Cfi Cfl1 Coq2 Cpb2 Ctsl Ece1 Ednra Epo Fat1 Gapvd1 Gp1ba Gpx1 Gpx4 Igfals Il1rn Il4 Il5 Kcnj1 Kirrel1 Kirrel2 Kirrel3 Lipc Nphs1 Nr3c1 Pla2g7 Ppargc1a Ptgs2 Scnn1a Scnn1b Serpinc1 Sod2 Stom Tfpi Tnfrsf11b Vldlr	11421 11814 11905 12488 12630 12631 13039 13617 13830 13856 14107 14723 14775 14815 15450 16005 16181 16189 16191 170643 18383 19017 19225 20276 20277 20656 21788 22359 230857 232345 238055 243911 27226 54631 56373 56379 625249 66691 67703 71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13365	reading disorder	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	ret.S	373625	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Ano1 Gucy1a1 H2-D1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Phactr1	101772 110557 11459 11461 11464 11465 11475 14964 14972 15006 15007 15013 15015 15018 218194 238880 60596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	apx-1 glp-1 ina-1 lin-12 pat-3 pgk-1 scd-2 tsp-12 ver-1 ver-3 ver-4	171965 175182 175504 176282 176286 176296 177890 178759 179054 181289 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	Cd14 Icos Ifng Il10 Il21 Pon1 Pon3	25325 25712 312086 365769 60350 64545 84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060805	Prieto syndrome Aliases: Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	Wnk3	279561	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110398	retinitis pigmentosa 51 Aliases: RP51	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	Ptgs1 Ptgs2	19224 19225	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	DEPDC5 DNM1 DNM2 KCNH5 KCNQ2 KCNQ3 KCNQ5 SLC32A1 STXBP1 STXBP2 SV2A	140679 1759 1785 27133 3785 3786 56479 6812 6813 9681 9900	Homo sapiens (human)	Alliance of Genome Resources

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