GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7376 - 7400** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060041	autism spectrum disorder	hst-1 rib-1	177675 178080	Caenorhabditis elegans
DOID:0060036	intrinsic cardiomyopathy	RpS3	42761	Drosophila melanogaster (fruit fly)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)
DOID:0060001	withdrawal disorder	COMT GAD1 GAD2 HTR2A	1312 2571 2572 3356	Homo sapiens (human)
DOID:0060001	withdrawal disorder	Comt Htr2a	12846 15558	Mus musculus (house mouse)
DOID:0060001	withdrawal disorder	Comt Htr2a	24267 29595	Rattus norvegicus (Norway rat)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)
DOID:0060000	infective endocarditis	Tlr6	21899	Mus musculus (house mouse)
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0050980	spinocerebellar ataxia type 31	PRNP	5621	Homo sapiens (human)
DOID:0050967	spinocerebellar ataxia type 17	PDIA3	2923	Homo sapiens (human)
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0050956	spinocerebellar ataxia type 6	ELOVL5 MPI	4351 60481	Homo sapiens (human)
DOID:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)
DOID:0050951	hereditary ataxia	HSD17B4 PRNP	3295 5621	Homo sapiens (human)

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