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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 **4076 - 4100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	Hivep2	15273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	Hk2 Igf2 Ins1 Ins2	15277 16002 16333 16334	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11664	nephrosclerosis Aliases: renal sclerosis	ADRB1 PTGDS	153 5730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Hmgcr Jag2 Lama2 Poglut1 Pomt2 Popdc3	15357 16450 16773 217734 224143 78977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CYBB IFNG TLR5 TLR9	1536 3458 54106 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	Hmgcs2	15360	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ARSG ARSK GUSB HYAL1	153642 22901 2990 3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	Hnrnpa1 Hnrnpa3	15382 229279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060211	amyotrophic lateral sclerosis type 20 Aliases: ALS20 amyotrophic lateral sclerosis 20	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	Hnrnpk	15387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ADRB2 BAAT DLD HSPA8 INS LDHA LDHAL6A LDHAL6B LDHB LDHC NBN PDHA1 PDHA2 PFKL PFKM PFKP PKLR PKM PTEN PTPN11 RHEB SREBF1 TJP2 YTHDF1 YTHDF2 YTHDF3	154 160287 1738 253943 3312 3630 3939 3945 3948 4683 51441 5160 5161 5211 5213 5214 5313 5315 54915 570 5728 5781 6009 6720 92483 9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:11396	pulmonary edema	ADRB2 AGT ALOX5 CCL2 IL13 NOS2 NOS3 SFTPA1 SGMS1 TNF VEGFA	154 183 240 259230 3596 4843 4846 6347 653509 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ADRB2 APOA1 APOB APOE EPHX2 GHR GK LDLR MMP9 PCSK9 PON2 RBP4 SERPINE1	154 2053 255738 2690 2710 335 338 348 3949 4318 5054 5445 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	ADRB2 HCN2 HLA-B IKBKB IL13 TNF	154 3106 3551 3596 610 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2942	bronchiolitis	ADRB2 CCL11 CD40 IL17A IL1RN MUC5B	154 3557 3605 6356 727897 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112338	spermatogenic failure 57 Aliases: SPGF57	PNLDC1	154197	Homo sapiens (human)	Alliance of Genome Resources
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 HFE	1543 1544 3077	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050083	Keshan disease	CYP1A1 CYP2C19 GPX1	1543 1557 2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	CYP1A1 KDM4C	1543 23081	Homo sapiens (human)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	CYP1A1 FLNB FRAS1 GLI3 GRIP1 HOXD13 PITX1 RET	1543 2317 23426 2737 3239 5307 5979 80144	Homo sapiens (human)	Alliance of Genome Resources

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