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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 **12826 - 12850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0050956	spinocerebellar ataxia type 6	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	CACNA1A CACNA1H CACNG2 GABRB3 GABRG2 GLUD1 GLUD2 GRIK1 HCN1 HTR7 LGI4 MMP9 NPY1R NPY2R NPY5R SLC2A1 YWHAZ	10369 163175 2562 2566 2746 2747 2897 3363 348980 4318 4886 4887 4889 6513 7534 773 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	CACNA1A CACNA1B CACNA1E	773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	CACNA1A CACNA1B CACNA1E PITRM1 SCYL1	10531 57410 773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	CACNA1A CACNA1B CACNA1E CALCA CD40LG EDNRA ESR1 FOS HTR7 KCNK18 MAOA NOS3 NPPB TNF TRPV1	1909 2099 2353 3363 338567 4128 4846 4879 7124 7442 773 774 777 796 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080365	endometrial hyperplasia	CA9 CDC25B JUP KRAS PTK2 SKP2 TFF1	3728 3845 5747 6502 7031 768 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR3 CCR5 CD68 CTLA4 CTNNB1 CYP27B1 DOCK8 EFTUD2 EIF2AK2 FAS FASLG HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL2 IL2RB IL4 IL6 KIR3DS1 MAP4K4 MBL2 MPL MYD88 PDCD1 PLAU PLAUR PREX2 SAMHD1 TLR3 TLR9 TNF TREM1 UGT1A1 UGT1A6 XRCC1	1232 1234 1493 1499 1594 25939 3113 3115 3117 3119 3440 3455 3459 355 3558 356 3560 3565 3569 3586 3588 3813 4153 4352 4615 5133 5328 5329 54106 54210 54578 54658 5610 6352 7098 7124 7515 768 80243 81704 9343 9448 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	Homo sapiens (human)	Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	CA12 CTNNB1 FGFR1	1499 2260 771	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:0060303	complement component 9 deficiency	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	12279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	12279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	117512	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	117512	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8b	313421	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8b	110382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060301	type I complement component 8 deficiency	C8a	230558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8B	732	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060301	type I complement component 8 deficiency	C8A	731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	109828	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060299	complement component 6 deficiency	C6	729	Homo sapiens (human)	Alliance of Genome Resources

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