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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 **926 - 950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	ARFGEF2 FLNA MAP1B NEDD4L	10564 2316 23327 4131	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ARG2 EHD3	851606 853374	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112258	N-acetylglutamate synthase deficiency Aliases: N-acetyl glutamate synthetase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency hyperammonemia due to N-acetylglutamate synthase deficiency	ARG2	853374	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	ARHGAP17 BAX C3 CACNG4 CASP7 DSC2 FOS GP6 GPX3 GSK3B IFNG IL10 IL17A IL1RL1 IL4 IL6 ITGAM NDUFB5 PLCG1 PTEN RHOA SDHB SERPING1 TNF ZEB1	1824 2353 27092 2878 2932 3458 3565 3569 3586 3605 3684 387 4711 51206 5335 55114 5728 581 6390 6935 710 7124 718 840 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	ARHGAP26 CBFB FLT3 GMPS	23092 2322 865 8833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ	285203 3516 4851 54567 57514 57572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	ARHGEF2	9181	Homo sapiens (human)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ARID1A ATM ATR BRCA1 CALR CD163 CHRNA5 CLPTM1L CR2 CSF1R CXCR4 CYP2E1 DDR2 EFNB2 ERBB3 EZH2 FGFR4 FLT1 FOSL2 FUBP1 GPX1 GRIN2A KDM3A KDR KMT2C MAP2K4 MAPK14 MST1R MUC5B PPIA RAC1 SNRPD1 SNRPE SPEN SRC STAT3 TERT TET2 TNFAIP3 TP53 VEGFA XRCC1	1138 1380 1432 1436 1571 1948 2065 2146 2264 23013 2321 2355 2876 2903 3791 4486 472 4921 545 5478 54790 55818 58508 5879 6416 6632 6635 6714 672 6774 7015 7128 7157 727897 7422 7515 7852 81037 811 8289 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ARID1A BAP1 FAS FASLG HSP90AA1 HSP90AB1 IDH1 IDH2 KRAS LCN2 LRP1B PBRM1 PTEN RNF43 RUNX1 SMAD4 TEP1	3320 3326 3417 3418 355 356 3845 3934 4089 53353 54894 55193 5728 7011 8289 8314 861	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	ARID1A BICRAL SMARCC1 SMARCC2 SMARCD1 SMARCD2	23506 6599 6601 6602 6603 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARID1A KMT2C KRAS PREX2	3845 58508 80243 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080297	Coffin-Siris syndrome 6	ARID2	196528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 CC2D2A IFT74 INPP5E	403 56623 57545 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111919	spermatogenic failure 38 Aliases: SPGF38	ARMC2	84071	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	ARPC1B CBLIF CCL2 NOD2 PTGS2 TNF	10095 2694 5743 6347 64127 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	ARPC5 ATM ATRX BSG CHRNA5 CHRNB4 CLPTM1L CSF1R CTNNB1 CYP1B1 DDR2 E2F1 ERCC6 FAP FGF9 FGFR4 FRZB FUBP1 GPX1 IDH1 IDH2 KMT2D LAMC2 POLE PREX2 PTCH1 PTK2 PTPN13 PTPRJ SFTPB SLC7A5 SOX30 SRC TERT	10092 11063 1138 1143 1436 1499 1545 1869 2074 2191 2254 2264 2487 2876 3417 3418 3918 472 4921 5426 546 5727 5747 5783 5795 6439 6714 682 7015 80243 8085 81037 8140 8880	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ARPC5 CARD10 CARD9 CD8A CTLA4 CTNNBL1 FADD FCHO1 FNIP1 IFNAR1 IKZF3 IL2 IL6ST IL7R IRAK4 LIG1 MAGT1 MCM10 MCTS1 MPEG1 MYD88 OAS1 OTULIN PIK3CG PTPRC REL SLC19A1 SPPL2A STK4 SYK TET2 TLR3 TLR4 TLR5 TLR8 TNFRSF9 TPP2 ZNFX1	10092 1493 219972 22806 23149 28985 29775 3454 3558 3572 3575 3604 3978 4615 4938 51135 51311 5294 54790 55388 56259 57169 5788 5966 64170 6573 6789 6850 7098 7099 7100 7174 84061 84888 8772 90268 925 96459	Homo sapiens (human)	Alliance of Genome Resources

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