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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 **1326 - 1350** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	g6pc3	790919	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	303565	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112133	severe congenital neutropenia 3 Aliases: Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis	HAX1	10456	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	Coro1a	12721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	Cd3d Il2 Il2rg Il7r Ptprc Tapbp	12500 16183 16186 16197 19264 21356	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	Ptp69D	39443	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	CD3D DCLRE1C IL2 IL2RG IL7R JAK3 PRKDC PTPRC RFX5 TAPBP ZAP70	3558 3561 3575 3718 5591 5788 5993 64421 6892 7535 915	Homo sapiens (human)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	clr-1	3565419	Caenorhabditis elegans	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	Cd3d Il2 Ptprc	116562 24699 25710	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation Aliases: SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	F49B2.6 W01C8.5 acn-1 anp-1 pat-2	173297 176240 179763 180780 180836	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	ABO ACE2 ANPEP BPI C5AR1 CASP9 CCL2 CCL5 CD14 CD4 CD68 CD9 CEACAM8 CLCF1 CLEC4M FGF7 FSHB HLA-B HLA-DRA HLA-DRB1 HP IFNG IL10 IL1R1 IL6 ITGA2B LHB MSR1 PECAM1 PLAT POMC PRL RAB31 SERPINA3 STAT1 TGFB1 THBD TLR2 TNF TSHB	10332 1088 11031 12 2252 23529 2488 28 290 3106 3122 3123 3240 3458 3554 3569 3586 3674 3972 4481 5175 5327 5443 5617 59272 6347 6352 671 6772 7040 7056 7097 7124 7252 728 842 920 928 929 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	Abo2 Abo3 Abo Ace2 Anpep Bpi C5ar1 Ccl2 Cd14 Cd4 Cd9 Fgf7 Fshb Hp Ifng Il10 Lhb Pecam1 Plat Serpina3c Serpina3n Tgfb1 Tnf Tshb	100301568 113959 24464 24770 24794 24795 24835 24932 24936 25325 25329 25447 25653 25692 25712 29348 29583 296321 296504 302668 59086 60350 65270 81641	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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