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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 **176 - 200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:9588	encephalitis	ABCB1 IL1RN MBP RELA TNF	3557 4155 5243 5970 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABCB11 ABCB1 ABCB4 ABCB5 ABCC12 ABCC4 ADRB1 ADRB2 ADRB3 AGER C5 CCL11 CCL2 CCR3 CD14 CD40LG CFTR CLCA1 CLCN2 CSF3R CXCR3 CYP1A1 EDEM1 EDN1 FAS FASLG FCGR2A GCLC HAVCR2 HFE HLA-G HSPA1A HSPD1 IGFBP3 IL13 IL17A IL18BP IL1A IL1RN IL6 IL9 IL9R LEP LTA MBL2 MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B NOS1 NOS2 NOS3 PPARA PRSS1 PTGDR2 PTGS2 PTX3 SCNN1B SERPINA3 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TIMP1 TLR4 TLR5 TLR9 TNF	10068 10257 1080 11251 1179 1181 12 1232 1441 153 154 1543 155 177 1906 2212 2729 2833 3077 3135 3303 3329 340273 3486 355 3552 3557 356 3569 3578 3581 3596 3605 3952 4049 4153 4282 4318 4353 4582 4583 4586 4842 4843 4846 5243 5244 54106 5465 5644 5743 5806 6338 6347 6356 6439 6440 6441 653509 7040 7076 7099 7100 7124 727 727897 84868 8647 929 94160 959 9695	Homo sapiens (human)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABCB11 ABCB4 ACE ADAMTS13 ADAR ADIPOQ AGER AGT AKAP12 ALB APOA1 AZGP1 C5 CCL2 CCL5 CCN2 CCR1 CD163 CD36 CENPC CLDN1 CPEB1 CPEB4 CSF1R CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 DNMT1 DRD4 EDN1 EGFR EGR1 ELN ENTPD2 F2 F3 F5 FBN1 FGFR4 FLT1 FUBP1 GCLC GDF1 GGT1 GLI3 GLUL GOLM1 GP1BA GPC3 HFE HLA-DPA1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HP HRAS ICAM1 IFNA2 IFNG IGF1R IGF2 IL10 IL18BP IL21 IRF5 ITGB6 ITIH4 KDR KIR3DS1 KLKB1 KRT18 KRT8 LBP LGALS3 MBL2 MMP1 MMP2 MPO MUC2 MYC NFE2L2 NOS3 NPPB PARP1 PDGFB PDGFD PDIA3 PECAM1 PGF PHKG2 PIK3CG PLAUR PNPLA3 PTGS2 RAD50 RBP4 RELA RELN SERPINA1 SERPINE1 SERPINH1 SLC6A4 SMO SOD2 SPAG9 SPINT1 TFPI TGFB1 TGFB2 THPO TLR3 TLR4 TNF UTP4 VASH1 VCAM1 VEGFA VEGFC WDR35 XRCC1	10068 100861540 10111 103 1060 11093 1230 142 1436 1490 1551 1576 1577 1636 177 1786 1815 183 1906 1956 1958 2006 213 2147 2152 2153 2200 2264 22846 2321 2657 2678 2719 2729 2737 2752 2811 2923 3077 3113 3117 3119 3123 3240 3265 335 3383 3440 3458 3480 3481 3586 3663 3694 3700 3791 3813 3818 3856 3875 3929 3958 4153 4312 4313 4353 4583 4609 4780 4846 4879 5054 51280 5155 5175 5228 5244 5261 5265 5294 5329 563 5649 5743 57539 59067 5950 5970 6347 6352 64506 6532 6608 6648 6692 7035 7040 7042 7066 7098 7099 7124 727 7412 7422 7424 7515 80310 80315 80339 84916 8647 871 8880 9043 9076 9332 9370 948 954 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:12351	alcoholic hepatitis Aliases: acute alcoholic hepatitis acute alcoholic liver disease	ABCB11 AGT AHR ALB CCL2 CCL5 COL1A1 CPT1A CYP7A1 DDR1 FAS ICAM1 IL13 NFKB1 PPARA SLC10A1 SREBF1 TNF	1277 1374 1581 183 196 213 3383 355 3596 4790 5465 6347 6352 6554 6720 7124 780 8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070232	benign recurrent intrahepatic cholestasis 2 Aliases: BRIC type 2 BRIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	ABCB4 CFTR DNASE1 GNRHR HLA-DQB1 KRT18 TNF VEGFA	1080 1773 2798 3119 3875 5244 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	Homo sapiens (human)	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	ABCB7 CALR TRNT1	22 51095 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050554	X-linked sideroblastic anemia with ataxia Aliases: Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia	ABCB7	22	Homo sapiens (human)	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ABCC1 ACE ADAM33 ADAM9 ADIPOQ ADRB1 ADRB2 AGER BAMBI BDKRB2 C3 C5 C5AR1 CAT CCL11 CCL1 CCL2 CCL5 CCL7 CCN2 CCR3 CCR5 CD28 CD40 CD80 CD86 CFTR CHI3L1 CHRM3 CHRNA3 CHRNA5 CHRNA7 CLCA1 CMA1 COL1A1 CRHR1 CSF2 CTLA4 CXCR2 CXCR3 CYP1A1 CYP1A2 CYP2E1 DEFB1 EDN1 EGFR EGR1 ELN ERBB3 F2 F2RL1 FAIM2 FAS FASLG FLT1 GC GRIK5 GRIN2B GZMA GZMB HDAC2 HHIP HLA-DPB1 HP HSPA4 HTR2A ICAM1 IL12B IL13 IL13RA1 IL16 IL17A IL18BP IL1RL1 IL1RN IL5 IL5RA IL6 IL9 KDR LEP LEPR LRP1B MAP2K4 MBL2 MCAM MMP1 MMP9 MPO MUC1 MUC5AC MUC5B NFE2L2 NOD2 NOS1 NOS2 NR3C1 NTF3 NTRK1 PLAU PLAUR PON1 PPARGC1A PTGS2 SELP SERPINA1 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SLC6A4 SMAD4 SMPD3 SOD3 STAT1 STAT4 TGFB1 TIMP1 TLR4 TNF TNFRSF1A TNFRSF1B VEGFA XRCC5	10068 1080 10891 1116 1131 1136 1138 1139 1179 12 1215 1232 1234 1277 1394 1437 1490 1493 153 154 1543 1544 1571 1636 1672 177 1906 1956 1958 2006 2065 2147 2150 23017 2321 25805 2638 2833 2901 2904 2908 3001 3002 3066 3115 3240 3308 3356 3383 355 3557 356 3567 3568 3569 3578 3579 3593 3596 3597 3603 3605 3791 3952 3953 4089 4153 4162 4312 4318 4353 4363 4582 4586 4780 4842 4843 4908 4914 5054 5265 5328 5329 53353 5444 55512 5743 624 6346 6347 6352 6354 6356 6403 64127 6416 6439 64399 6440 6441 6532 653509 6649 6772 6775 7040 7076 7099 7124 7132 7133 718 727 727897 728 7422 7520 80332 847 8754 9173 9370 940 941 942 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 ABCC3 CALB1 F7 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 2155 28234 3082 54658 6648 793 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	ABCC2 ABCC3 RDX SLCO1A2	1244 5962 6579 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ABCC2 ADRB2 ALB ALOX5 ANXA2 APC APOA1 ASPH EPO EPOR EZH2 FASLG FSCN1 GNAS HDAC6 HGF IL1R2 IL4R IL6 INS KIT KRT7 MDM2 MET MFSD4A MGMT MKI67 MMP2 MMP9 MUC16 MUC1 MUC2 MUC3A MUC4 MUC5AC MUC5B MUC6 NCAM1 NOS2 NOTCH1 OGG1 OSBP2 OSBPL7 PANX2 PAWR PPIA PPP3CA PREX2 PRSS2 PRSS56 PTGS2 REG1A RNF43 RUNX3 SLC4A4 SLC7A5 SOCS3 SOX2 TGFB1 TGFBR2 THBS1 TNC TNFAIP3 TTR UGT1A9 WDHD1 WNT9A	10013 11169 114881 1244 148808 154 2056 2057 213 2146 23762 240 2778 302 3082 324 335 3371 356 3566 3569 3630 3815 3855 4193 4233 4255 4288 4313 4318 444 4582 4583 4584 4585 4586 4588 4684 4843 4851 4968 5074 54600 5478 54894 5530 5645 56666 5743 5967 646960 6624 6657 7040 7048 7057 7128 7276 727897 7483 7850 80243 8140 864 8671 9021 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	ABCC2 CYP2E1 HMGCR	1244 1571 3156	Homo sapiens (human)	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	ABCC3 ABCG2 ABL1 ACSL6 ASXL1 BMI1 BRD7 CALR CBL CCL2 CD86 CDH1 CDKN1B CFHR1 CHI3L1 CREBBP CSF2 CSF3 CSF3R CTLA4 CXCR4 CYP1A1 CYP2B6 DNMT1 EZH2 F3 FADD FAS FGFR1 FLT3 GATA2 GPI GPX1 HLA-DQB1 IDH1 IDH2 IL10 IL1A IL6 ITGAV ITGB3 KAT6A KIT KMT2A KRAS LPP MDM2 MEFV MLLT10 MYBL2 NCOA2 NF1 NOS3 NPM1 NRAS NSD1 NUP214 NUP98 PHF6 PICALM PLCB1 RUNX1 SAMHD1 SF3B1 SH3GL1 SOD2 SRSF4 TERT TET2 TFPI2 TFR2 TOP2A TOP2B TP53 TYMS VEGFA ZRSR2	1027 10499 1116 1387 1437 1440 1441 1493 1543 1555 171023 1786 2146 2152 2260 2322 23236 23305 23451 25 25939 2624 2821 2876 29117 3078 3119 3417 3418 355 3552 3569 3586 3685 3690 3815 3845 4026 4193 4210 4297 4605 4763 4846 4869 4893 4928 54790 6347 6429 64324 6455 648 6648 7015 7036 7153 7155 7157 7298 7422 7852 7980 7994 8021 8028 811 8233 8301 84295 861 867 8714 8772 942 9429 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABCC3 ADRB2 AMN APOL1 APOL3 BMP7 CASP9 CCL2 CCL5 CDC42 COL4A1 CTLA4 CUBN F7 FGR G6PD GBA3 HAVCR1 HCK HNF1A KAT2A KAT2B KIRREL1 KIRREL2 KL KLB LCN2 LCT LCTL LIPC MIF MKI67 MLXIPL MMP9 MYH9 NFATC1 NPHS1 PALS1 PPP3CA RAC1 RAC2 RAC3 RAMP2 RELB SRC SREBF1 SREBF2 STOM TGFBI TGFBR1 TGFBR2 TNF TNFRSF1A TRPC6 UMOD VPS33B XYLT1	10266 1282 1493 152831 154 197021 2040 2155 2268 2539 26276 2648 26762 3055 3934 3938 3990 4282 4288 4318 4627 4772 4868 51085 55243 5530 57733 5879 5880 5881 5971 6347 6352 64131 64398 655 6714 6720 6721 6927 7045 7046 7048 7124 7132 7225 7369 8029 80833 81693 84063 842 8542 8714 8850 9365 998	Homo sapiens (human)	Alliance of Genome Resources

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