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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 **6101 - 6125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080809	chronic asthma	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Aliases: ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease	C9orf72	203228	Homo sapiens (human)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	CD68 FGFR3	2261 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	FLT4	2324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	GRN	2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	SLC6A5	9152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	ABAT ABCC8 ABCC9 BAD BDNF CASP9 CNR1 COMT COX1 CSF2 CX3CL1 DRD2 DRD3 EGFR ENO2 ESR1 GBA1 GDNF GFRA1 GFRA2 GRM8 GSK3A HSPA1A HSPA9 KCNJ11 LRRK2 MAPT MMP3 NDUFS3 NFKB2 NGF NGFR NOS1 NTRK1 PARK7 PINK1 PTGS2 RELA RET SHH SLC11A2 SLC17A8 SLC6A3 SLC6A4 SRC TNFRSF1B VDAC1	10060 11315 120892 1268 1312 1437 18 1813 1814 1956 2026 2099 246213 2629 2668 2674 2675 2918 2931 3303 3313 3767 4137 4314 4512 4722 4791 4803 4804 4842 4891 4914 572 5743 5970 5979 627 6376 6469 65018 6531 6532 6714 6833 7133 7416 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050598	extrapulmonary tuberculosis	CD209 CLEC4M EREG	10332 2069 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:2559	opiate dependence Aliases: Opioid type dependence	ABCB1 AKT1 BDNF BMPER C9 COMT DRD2 GAL NAV3 NGF NPY1R OPRD1 OPRK1 OPRM1 VEGFA	1312 168667 1813 207 4803 4886 4985 4986 4988 51083 5243 627 735 7422 89795	Homo sapiens (human)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6PD GPI HK1 PKLR	2539 2821 3098 5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NUP62	23636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	CD36 SERPINE1	5054 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	SCARB2	950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TFR2	7036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081219	autosomal recessive intellectual developmental disorder 57	MBOAT7	79143	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110976	brachydactyly type E2 Aliases: BDE2	PTHLH	5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ALB CD40 CD40LG CD86 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 IL10 IL1A IL1RN IL2 IL4 ITGB3 PLAT TGFB1	213 2212 2213 2214 3119 3123 355 3552 3557 3558 3565 3586 3690 5327 7040 942 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources

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