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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 **201 - 225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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: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: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: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: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: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: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:4724	brain edema Aliases: intracranial swelling wet brain	ABCC8 AQP1 AQP3 AQP4 AVPR1A C5 CACNA1B CP DMD F2 F2R GFAP ICAM1 KCNN4 MMP9 PLAT PLAU SCN3B SERPINE2 SERPINF1 SOD2 VEGFA	1356 1756 2147 2149 2670 3383 358 360 361 3783 4318 5176 5270 5327 5328 552 55800 6648 6833 727 7422 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ABCC8 CCL5 EP300 ITPR1 TNF TRPM4	2033 3708 54795 6352 6833 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	ABCC8 GCK HK2 HK3 HKDC1	2645 3099 3101 6833 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABCC9 ACE ACTC1 ADRB1 ADRB2 AGT AGTR1 AGTR2 APOE BAG3 BAX CACNG8 CAP2 CASP9 CAT CD40 CDK8 CENPF COL15A1 COL18A1 CS CTSL CTSV CXCR3 CYP1A1 CYP2C19 DAG1 DES DICER1 DLL1 DLL4 DMD DNER DNM1L DSC2 DSG2 DSP DYRK1A ECE1 EDN1 EEF1A1 EEF1A2 EGFR EMD ERBB2 EYA4 FADS2 FAS FKRP FLNC GDF1 GPX1 HFE HLA-DQB1 HP ICAM1 ICAM3 ICAM4 IL10 IL13RA2 IRF4 ITPR1 JAG1 JAG2 LDB3 LEPR LMNA LMOD2 LTBP2 MAP3K7 MAS1 MBNL1 MBNL2 MED1 MEF2A MMP14 MMP1 MMP2 MRGPRD MYH15 MYH1 MYH7 NCOA6 NEBL NFATC4 NOS2 NPPA NPPB NR2F2 OBSCN ORAI1 ORAI3 PDCD1 PDLIM5 PHC1 PPARGC1A PPP3CA PRKCA PTGER4 PTPN11 RAB1A RANBP1 RBM20 RBM24 RBP4 RBPJ RPS6KB1 RTF1 RTTN SNAI1 SOD2 SP4 SRF STIM1 STIM2 TIMP3 TNF TNNI3 TP53 TRDN TTN VCL VEZF1 YME1L1	10059 10060 10150 1024 10345 10486 10529 10611 1063 10730 10891 11155 116512 1306 1431 1514 1515 153 154 1543 1557 1605 1636 1674 1756 182 1824 1829 183 1832 185 1859 186 1889 1906 1911 1915 1917 1956 2010 2064 2070 221662 22989 23054 23168 2318 23405 25914 2657 282996 2833 28514 2876 3077 3119 3240 3383 3385 3386 348 3516 355 3586 3598 3662 3708 3714 3953 4000 4053 4142 4154 4205 4312 4313 4323 442721 4619 4625 4776 4843 4878 4879 5133 54567 5469 5530 5578 5734 57620 5781 581 5861 5902 59283 5950 6198 6615 6648 6671 6722 6786 6885 70 7026 7078 7124 7137 7157 7273 7414 7716 79147 80781 84033 842 847 84876 92737 93129 9415 9531 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ABCD1 ABCD2 ABCD3 ACSBG1 ACSBG2 ELOVL1 ELOVL7 MMP2 MMP9 TIMP1	215 225 23205 4313 4318 5825 64834 7076 79993 81616	Homo sapiens (human)	Alliance of Genome Resources
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ABCD3 IL2 PEX11B PEX19 PEX3 SCP2	3558 5824 5825 6342 8504 8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	ABCD3	5825	Homo sapiens (human)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABCE1 ABCG2 ADAM28 AFDN AMACR APEX1 ATM ATP7B BIN1 BRCA1 CA9 CADM1 CD46 CD59 CD82 CD9 CDC25A CDC25B CDH13 CTCF CYP24A1 DCN DDR1 EGFR ENO2 EP300 ESR1 FAS FZD1 FZD2 HDAC1 HLA-DRB1 IGF2R KDM6B KDR KLK6 KMT2D LZTS1 MDC1 MMP14 MRE11 MSH2 MSH6 NCOA1 NCOA3 NME1 PDGFRA PDGFRB PLCG1 PLK1 PLK3 POLE PRSS8 RHOA SNW1 SRD5A1 SRD5A2 STAT1 TFRC THOC5 TIMP3 TWIST1 VEGFC WNT2 ZFHX3	1012 10664 10863 11178 1263 1591 1634 1956 2026 2033 2099 22938 23135 23600 23705 2535 274 2956 3065 3123 328 3482 355 3732 3791 387 4179 4301 4323 4361 4436 463 472 4830 5156 5159 5335 5347 540 5426 5652 5653 6059 6715 6716 672 6772 7037 7078 7291 7424 7472 768 780 8085 8202 8321 8563 8648 928 9429 9656 966 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ABCE1 ADAM28 AKR1A1 ALX4 APOC3 ATRX AZGP1 BTK CADM1 CALR CBX5 CD44 CDC73 CDH1 CHD4 CHRNA3 CHRNA5 CHRNB4 CLPTM1L COL10A1 CSF1R CXCR4 CYP24A1 DLL4 E2F1 EEF2 EGF EGFR EHMT2 ERBB2 ERBB3 ERBB4 ERCC6 ERGIC3 ESCO2 EZH2 FAS FGF9 FGFR4 FOXA1 FOXP1 FUBP1 GPX3 HSP90B1 IDH1 IDH2 IGF2R IKZF1 IL1R2 KMT2C KRAS LRP1B MAP2K1 MAP4K4 MKI67 MSH2 MUC1 MUC4 MYC NOTCH1 NUF2 PLCG1 PLOD2 PRDM1 PTCH1 PTPN13 PTPRB PTPRJ RARB RBM10 RNF43 RUNX1 SDC1 SERPINA3 SETD2 SLC1A5 SLC3A2 SLC7A5 SNRPB SNRPE SOX30 SPOP SRC TERT TIMP3 UBR5 XPO1 XRCC1 ZFHX3	10320 10327 10863 10919 11063 1108 1136 1138 1143 12 1300 1436 157570 1591 1869 1938 1950 1956 2064 2065 2066 2074 2146 2254 2264 23468 23705 27086 2878 29072 3169 3417 3418 345 3482 355 3845 4288 4436 4582 4585 4609 463 4851 51366 51614 5335 53353 5352 54567 546 54894 5604 563 5727 5783 5787 5795 58508 5915 60529 6059 6382 639 6510 6520 6628 6635 6714 695 7015 7078 7184 7514 7515 7850 7852 79577 81037 811 8140 8241 83540 8405 861 8880 9448 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABCG2 ACE ALB APOE B2M CBL CCN1 CD40 CD40LG CD46 CD86 CFHR1 CHI3L1 CTLA4 CYP1A1 CYP2C19 DSG2 ENG EXOSC2 FASLG FCGR2A FGG FLT3LG FTO GPX1 GPX3 HFE HK1 ICAM1 IGF2R IL10 IL1A IL1RN IL4R IRF4 KRAS MEFV MET MTR NONO NOTCH2 NOX1 NRAS PON1 RANBP2 ROBO1 SOD2 SPARC SPP1 TERT TFRC TGFB1 TNF TNFRSF10A TNFRSF17 TP53 TYMS VEGFA XPO5 XRCC5	1116 1493 1543 1557 1636 1829 2022 213 2212 2266 2323 23404 27035 2876 2878 3077 3078 3098 3383 348 3482 3491 3552 3557 356 3566 3586 3662 3845 4179 4210 4233 4548 4841 4853 4893 5444 567 57510 5903 608 6091 6648 6678 6696 7015 7037 7040 7124 7157 7298 7422 7520 79068 867 8797 942 9429 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ABCG2 ADRB3 HP LPA PRPS1 SLC17A3	10786 155 3240 4018 5631 9429	Homo sapiens (human)	Alliance of Genome Resources

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