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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **5716** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	Cps1	227231	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	F10 F12 Gria1 Grin2a Grin2b	24409 24410 29243 306761 50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	CBS MTR	4548 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Ass1	11898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	Bcat2	12036	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB DBT DLD	1629 1738 593 594	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GLDC	2731 275	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	SLC3A1	6519	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	20532	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	BRCA1 CHRNA5 CLPTM1L CR2 CSF1R CYP2E1 GPX1 MAP2K4 MAPK14 MST1R TET2 TP53 XRCC1	1138 1380 1432 1436 1571 2876 4486 54790 6416 672 7157 7515 81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9256	colorectal cancer	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ABL1 AKT1 ALX4 APC ARID2 ATM BAMBI BAX BCOR BRCA1 BUB1 BUB1B CASP9 CES1 CHD4 CHEK2 CTNNB1 CTNNBL1 CYP24A1 CYP2E1 DCC DDR2 DDX3X DICER1 DLC1 EGFR EP300 ERBB4 ERCC6 EZH2 F7 FAT1 FGFR3 FLCN GALNT12 GPX1 GRIN2A HFE HILPDA HLA-DQB1 HNF1A IKZF1 IL6 ITPKC JAK1 KDM6A KDR KRAS LRP1B MAP2K4 MAPK9 MKI67 MLH1 MSH2 MYD88 NRAS NTRK3 PDGFRL PIK3CA PIK3CD PLA2G2A POLE PTPN12 PTPN13 PTPRJ PTPRT RAC1 RBM10 RNF43 SEPTIN9 SETD2 SPOP SRC STIM1 TCF3 TGFB2 TGFBR1 TLR2 TNFAIP3 TP53 XPO1 XPO5 XRCC1 YTHDF1	10320 10395 1066 10801 1108 11122 11200 1499 1571 1591 1630 1654 1956 196528 201163 2033 2066 207 2074 2146 2155 2195 2261 23405 25 25805 2876 2903 29072 29923 3077 3119 324 3569 3716 3791 3845 4288 4292 4436 4615 472 4893 4916 4921 5157 5290 5293 5320 53353 5426 54880 54894 54915 5601 56259 57510 5782 5783 5795 581 5879 60529 6416 6714 672 6786 6927 6929 699 701 7042 7046 7097 7128 7157 7403 7514 7515 79695 80271 8241 8405 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ERS1	850438	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	Trem2	83433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	CHMP2B GRN MAPT	25978 2896 4137	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	CSF1R KIT SDHB SDHC SETD2 SLCO1B3 STIM1 TERT	1436 28234 29072 3815 6390 6391 6786 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	CTH HMGCL PCCA PCCB PHGDH	1491 26227 3155 5095 5096	Homo sapiens (human)	Alliance of Genome Resources

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