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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 **1976 - 2000** of **4649** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB	229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	EPB41 SLC4A1	2035 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	CPOX	1371	Homo sapiens (human)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	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:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E TNFRSF11B	4907 4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080939	hereditary angioedema type I	SERPING1	710	Homo sapiens (human)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	TLR4 TNF	7099 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR TERT	3417 3418 3952 3953 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	A2M ABCA1 ABCB1 ABCB4 ABCC3 ABCE1 ACE ACER3 ADIPOQ AFP AK3 AKR1B1 AKT1 AKT2 ALB ALDH2 ALDH7A1 ALDOC ALX4 ANXA2 ANXA6 APC APEX1 APOA1 APOA2 APOA4 APOC2 APOC3 APOC4 APRT ARID1A ARID2 ASPM ASS1 ATP7B AZGP1 BAX BCORL1 BMI1 C3 CA12 CA9 CAD CADM1 CADM2 CALR CAPN3 CASP9 CAT CBFB CBL CBX2 CBX4 CCL2 CCL5 CD274 CD68 CDH1 CDK12 CDK13 CEBPB CEP164 CES1 CHD4 CHD5 CKAP4 CLDN1 CLPTM1L COL18A1 COX1 CPS1 CSF1R CTLA4 CTNNB1 CTSB CTSL CTSV CUX1 CXCR4 CYP2C19 CYP2E1 DDR1 DDR2 DDX3X DICER1 DNMT1 DSN1 EFEMP1 EFTUD2 EGF EGFR ENAH ENG EP300 EPCAM EPO ERBB3 ERBB4 ERN1 EZH2 F2 FAS FASLG FGFR1 FGFR2 FGFR4 FLT3 FOSL2 FOXA1 FOXM1 FOXO1 FOXP1 FTH1 FUBP1 G6PC1 G6PD GC GGT1 GMPS GNMT GOLM1 GPC1 GPC3 GPX1 GPX3 GRB7 HAVCR1 HAVCR2 HDAC2 HDAC4 HFE HIF1A HILPDA HLA-DPA1 HLA-DQA1 HLA-DQB1 HMGCS2 HNF1A HNRNPA1 HNRNPA2B1 HNRNPAB HNRNPD HNRNPH1 HP HPRT1 HRAS ICAM1 IDH2 IFNA2 IFNL1 IGF1R IGF2 IGF2R IKZF1 IL10 IL12A IL15RA IL18R1 IL21 IL2 IL6 IL6ST ING3 INSR IQGAP2 ITIH4 JAG1 JAK1 JUND KAT2B KCNH1 KDM1A KDM3A KDM6A KDR KIF1B KIR3DS1 KLF4 KLRF1 KMT2B KRAS KRT18 LEP LEPR LPAR1 LRP1B MAP2K2 MAP2K4 MAP3K1 MAP4K4 MBL2 MCM7 MDM2 MECP2 MET MME MPO MTDH MTOR MYC MYD88 ND5 NEIL3 NFE2L1 NFE2L2 NFKB1 NLRC5 NOS2 NRAS NRG1 NRP1 NUF2 PAFAH1B1 PCNA PDCD1 PDGFRL PFAS PHF6 PIK3CA PIK3CB PIK3R3 PINX1 PLAU PLCG1 PLOD3 PNPLA3 PON1 PPARA PPARG PPAT PPP1R9A PPP1R9B PRDM1 PREX2 PRL PTCH1 PTEN PTGS2 PTK2 PTPN13 PTPRB RAC1 RB1 RBM10 RECQL RGN RICTOR RNF43 RUNX1 RUNX3 RYR3 SARDH SERPINB5 SERPINF1 SF3B1 SF3B4 SHC1 SIX1 SKP2 SLC38A1 SLC7A5 SLCO1B3 SMAD4 SMARCA4 SMARCB1 SMARCC1 SMC3 SMG9 SMO SNRPE SNW1 SOAT2 SOD2 SOX30 SPAG9 SPOCK1 SPOP SPP1 SRC SRF STAT4 STAT5B STC2 STIM1 STMN1 TBX3 TEK TEP1 TERT TET1 TET2 TFRC TGFA TGFBR2 TLR2 TLR3 TLR4 TLR9 TNF TNFAIP3 TP53 TRAF7 TSC2 TTK TTR TYMS UACA VAV1 VEGFA VEGFC WNT2 XPO1 XPO5 XRCC1 YWHAZ ZFHX3	10262 10320 1051 1066 10788 10970 11063 1108 1373 1436 1493 1499 1508 1514 1515 1523 1557 1571 1636 1654 174 1757 1786 182 19 1902 1950 1956 196528 2 2022 2033 2056 2065 2066 207 208 2081 213 2146 2147 217 2202 2260 2263 2264 22897 22938 230 23028 2305 2308 23095 231 2322 23405 23451 2355 23705 2475 2495 253260 253559 2538 2539 259266 26038 2638 26762 2678 27086 2719 27232 2817 28234 282618 2876 2878 2886 29126 29923 302 3066 3077 3084 309 3091 3113 3117 3119 3158 3169 3178 3181 3182 3184 3187 324 3240 3251 3265 328 335 336 337 3383 3418 344 3440 345 346 3480 3481 3482 353 355 3558 356 3569 3572 3586 3592 3601 3643 3700 3716 3727 3756 3791 3813 3845 3875 3925 3952 3953 4072 4089 4153 4176 4193 4204 4214 4233 4311 4353 445 4512 4540 4609 4615 463 4779 4780 4790 4843 4893 4921 501 5048 50808 5111 51280 5133 51348 5157 51755 5176 5198 5243 5244 5268 5290 5291 5328 5335 53353 540 54106 5444 54556 5465 5468 5471 54790 54894 54984 55075 55247 55331 55607 55740 55818 56006 5605 5617 563 5727 5728 5743 5747 57510 5783 5787 581 5879 59067 5925 5965 60529 6059 6263 63035 6347 6352 639 6416 6464 648 6495 6502 6597 6598 6599 6608 6635 6648 6695 6696 6714 6722 6775 6777 6786 6926 6927 7010 7011 7015 7037 7039 7048 7097 7098 7099 7124 7128 7157 718 7249 7272 7276 7298 7403 7409 7422 7424 7472 7514 7515 7534 768 771 780 7852 790 79980 80243 80312 80339 80781 81037 811 8140 81539 8241 825 8289 83540 8405 84166 842 84231 84295 8435 84687 847 84733 84868 8503 8535 861 8614 8621 864 865 867 8714 8809 8829 8833 8850 8880 8985 9043 9076 9104 9126 92140 9314 9343 9370 9448 968 9757 9759 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050868	hepatocellular adenoma	A2M CYP2E1 HNF1A HP HPR KRAS PTPN11	1571 2 3240 3250 3845 5781 6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:687	hepatoblastoma	APOA1 CDH1 CLDN1 CTNNB1 DPEP1 FAS GPC3 MKI67 SALL1 SALL4 SMO SPOP ZFHX3	1499 1800 2719 335 355 4288 463 57167 6299 6608 8405 9076 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO AFP ATP7B F5 GOLM1 IFNG LIPC NOS2 OGG1 PDCD1 SPP1 TF	174 2153 28 3458 3990 4843 4968 51280 5133 540 6696 7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP APOA1 CCL5 CCR5 CD274 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNA2 IFNAR1 IFNG IFNL1 IL10 IL12A IL13 IL2 IL4 IL6 IRF5 KIR2DS1 KIR3DL1 KIR3DS1 KLRC1 KLRK1 LDLR MBL2 MPL MYC NCR1 NCR3 PDCD1 PTX3 SAMHD1 STAT1 STAT2 TERT TLR3 TLR9 TREM1	1234 174 2147 22914 259197 25939 282618 29126 3117 3119 3123 3135 335 3440 3454 3458 3558 3565 3569 3586 3592 3596 3663 3806 3811 3813 3821 3949 4153 4352 4609 5133 54106 54210 5806 6352 6772 6773 7015 7098 9437	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:12549	hepatitis A Aliases: Viral hepatitis, type A	ACE CTLA4 PDCD1 TNF XRCC1	1493 1636 5133 7124 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ABCB1 CCL2 EPOR G6PD GABRA1 GABRB1 GABRG2 GC GLUD1 GLUD2 GRIA1 HIF1A INSR NOS1 NOS2 PTGS1	2057 2539 2554 2560 2566 2638 2746 2747 2890 3091 3643 4842 4843 5243 5742 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:3317	hepatic angiomyolipoma	TSC2	7249	Homo sapiens (human)	Alliance of Genome Resources

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