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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 **15751 - 15775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ABCC8 AGTR2 AKT2 CDK7 CYP2C9 EPO GCK GLUD1 GRIN2B PPP1R3A PRL UCP3	1022 1559 186 2056 208 2645 2746 2904 5506 5617 6833 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ABCC8 ADIPOQ ADM AGT AGTR1 CCL2 GCK GFPT1 GLUD1 HP IL6 INS IREB2 KCNJ11 LEP LEPR LIPC LTA NPY5R PFKFB1 PRKCQ PTEN PTPN1 PTPRF RBP4 RPS6KB1 SCD	133 183 185 2645 2673 2746 3240 3569 3630 3658 3767 3952 3953 3990 4049 4889 5207 5588 5728 5770 5792 5950 6198 6319 6347 6833 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ABCC8 ACE2 ACE AGER AGT AIFM1 ALB AP2B1 APOE APP AQP4 BAD BAX BCAN BDNF C1QTNF6 C3 CALCA CAMK2A CASP6 CASP9 CD86 CREB1 CRTC1 CSF3 CXCR3 CYP2E1 DICER1 EGR1 EGR2 EIF2S1 ELANE EPCAM EPHB2 EPN1 EPO ERCC6 F12 FADD GAP43 GAPDH GDNF GHRL GHSR GLUL GRIN1 GSK3B HAS2 HDAC4 HDAC9 HIF1A HMGB1 HP HPR HSPA4 IL13 IL1RN IL4 IL5 IL6 IL7R IRF4 KCNN4 MAG MAPT MMP9 MTOR NAMPT NCAM1 NFE2L2 NGF NGFR NOD2 NOS2 NOX1 NRG1 OGG1 PARK7 PARP1 PAWR PDGFRA PDGFRB PLAT PTPRZ1 RGMA RPL28 RUNX1 SERPINE1 SERPINF1 SHH SIRT1 SLC12A2 SLC1A2 SLC2A1 SLC9A1 SMO SNAP91 SOD1 TGFB1 TNF TNFRSF1A TREM1 UPP1 VEGFA	10135 11315 114904 1385 142 1440 1571 163 1636 177 183 1958 1959 1965 1991 2048 2056 2074 213 2161 23373 23405 23411 2475 2596 2597 2668 2693 27035 2752 2833 2902 2932 29924 3037 3084 3091 3146 3240 3250 3308 348 351 3557 3565 3567 3569 3575 3596 361 3662 3783 4072 4099 4137 4318 4684 4780 4803 4804 4843 4968 5054 5074 5156 5159 51738 5176 5327 54210 56963 572 5803 581 59272 6158 627 63827 64127 6469 6506 6513 6548 6558 6608 6647 6833 7040 7124 7132 718 7378 7422 796 815 839 842 861 8772 9131 942 9734 9759 9892	Homo sapiens (human)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	ABCC8 ABCC9 AGT AKAP12 AMIGO3 APOA1 APOE BDKRB1 BDKRB2 BDNF C3 CACNA1D CACNA1H CACNA1I CAPN1 CASP7 CAT CCL2 CCL5 CDKN1B CERS2 CNR2 CREB1 CYP11A1 CYP17A1 DBN1 FAS FGFR1 FTO FUBP1 GC GDNF GFRA1 GFRA3 GPX3 GRIN1 GRIN2B GSK3B HGF HMGB1 HRH3 HSD3B1 ICAM1 IL10 IL1RN IL6 IL6R JAK1 JAM3 KARS1 KCNC4 KCNJ11 LAMP2 LRP1 MAG MAP2 MC4R MMP9 MPZ MTOR NEFH NEFL NEFM NF1 NGFR NLGN2 NLGN3 NRG1 OPRL1 OPRM1 PCNA PCSK5 PDGFRA PDGFRB PLAT PLAU PMP22 PPARGC1A PTAFR QARS1 RANBP1 RANGAP1 REG3G RGMA SCN10A SERPINE1 SERPINF1 SLC17A8 SNW1 SOD1 TIMP3 TLR4 TNF TNFRSF1A TNFRSF1B	10060 1027 10891 11255 1269 130120 1385 1583 1586 1627 183 2260 22938 246213 2475 2638 2668 2674 2676 2878 2902 2904 2932 29956 3082 3084 3146 3283 335 3383 348 355 3557 3569 3570 3586 3716 3735 3749 3767 386724 3920 4035 4099 4133 4160 4318 4359 4741 4744 4747 4763 4804 4987 4988 5054 5111 5125 5156 5159 5176 5327 5328 5376 54413 56963 5724 57555 5859 5902 5905 623 624 627 6336 6347 6352 6647 6833 7078 7099 7124 7132 7133 718 776 79068 823 83700 840 847 8880 8911 8912 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ABCC6 ENPP1	368 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ABCC6 CAT ELN ENPP1 GPX1 MMP2 SOD2 VEGFA XYLT1 XYLT2	2006 2876 368 4313 5167 64131 64132 6648 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	ABCC3 DRD2 GDNF HSD3B1 HSD3B2 PGR PRL PRLR SLC6A3 SRD5A1 SRD5A2	1813 2668 3283 3284 5241 5617 5618 6531 6715 6716 8714	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
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:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	ABCC2 CYP2E1 HMGCR	1244 1571 3156	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: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: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:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	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: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: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:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	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: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: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: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

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