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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **26 - 50** of **4115** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 CD44 HLA-DQA1 KMT2D PLCE1 RNF43 TP53 UBR5 XPO1	154664 3117 51196 51366 54894 7157 7514 8085 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	ABCA3 CSF2 CSF2RA CSF2RB SFTPB SFTPC	1437 1438 1439 21 6439 6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ABCA4 APOE C2 C3 CFB CFH CFI ESR1 IL17A KDR MMP2 NFE2L2 PON1 PPARGC1A PRPH2 SERPING1 TLR4	10891 2099 24 3075 3426 348 3605 3791 4313 4780 5444 5961 629 7099 710 717 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 CA4 CAT CC2D2A CNGA1 CNGB1 CRB1 GUCY2D HK1 HKDC1 IMPG1 MFRP POMGNT1 PRPF3 PRPF8 PRPH2 PRPS1 RGR RHO RLBP1 SERPINF1 SNRNP200 SOD1 USH2A	10594 1258 1259 23020 23418 24 3000 3098 3617 5176 55624 5631 57545 5961 5995 6010 6017 6647 7399 762 80201 83552 847 9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 HDAC4 HGF PKD2 PRPH2 SERPINF1 TFPI2	24 3082 5176 5311 5961 7980 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABCB1 ABCC2 ABCG2 ABL1 AKT1 BCR CRKL CYP1A1 CYP3A5 FAS FASLG HLA-DQA1 HLA-DQB1 IL10 MDM2 VEGFA XRCC1	1244 1399 1543 1577 207 25 3117 3119 355 356 3586 4193 5243 613 7422 7515 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABCB1 ABCC2 ABO BAX BCR CFB CREBBP CSF3 CYP1A1 CYP3A5 DPYD FLT3 GNB1 GPX1 HFE HK1 HLA-DQA1 HLA-DQB1 IFNG IKZF1 IRF4 KDM6A KRAS MEFV MTR NAT2 NBN NOS3 NRAS NUP214 PON1 TERT TYMS XRCC1	10 10320 1244 1387 1440 1543 1577 1806 2322 2782 28 2876 3077 3098 3117 3119 3458 3662 3845 4210 4548 4683 4846 4893 5243 5444 581 613 629 7015 7298 7403 7515 8021	Homo sapiens (human)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ACVR1B ADAM28 ARID1A ARID1B ATM BAD BAG6 BRCA1 CA12 CA9 CASP7 CASP9 CBL CDH13 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CYP24A1 DDR1 DNMT1 E2F1 EGF EGFR EPAS1 ERBB3 ERCC5 ERCC6 ESR1 FAT1 FGFR1 FGFR4 FH FOXL2 FRZB GPX1 HDAC3 HIF1A HS3ST2 IDH2 IL1A IL1RN IL7R JAK1 KDM2A KDM6A KDR KMT2C KMT2D LRP1B LTF MAP2K4 MAP3K1 MSH2 MYD88 NCOA2 NFKB1 NRP1 NSD2 PBRM1 PLAU PLCG1 POLE PTEN PTGS2 PTPRB RARB RELA RUNX2 RUNX3 SDHA SDHC SFTPB SFTPD SLC3A2 SMARCA4 SPP1 TERT TET2 TNF TNFRSF1A TYMP UGT1A1 XPO1 XPO5 XRCC1 ZFHX3	1012 10499 10863 1136 1138 1139 1143 1244 1436 1591 1786 1869 1890 1950 1956 2034 2065 2073 2074 2099 2195 2260 2264 2271 22992 2487 2876 3091 3418 3552 3557 3575 3716 3791 4057 4214 4436 4615 463 472 4790 51727 5243 5328 5335 53353 5426 54658 54790 55193 572 5728 5743 57492 57510 5787 58508 5915 5970 6389 6391 6416 6439 6441 6520 6597 668 6696 672 7015 7124 7132 7403 7468 7514 7515 768 771 780 7917 8085 81037 8289 840 842 860 864 867 8829 8841 91 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABCB1 ABCE1 CCL11 CCL5 CCR2 CCR5 CD209 CD40LG CXCR1 CYP2B6 FAS FCGR3A GC HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG IL10 IL21R KIR3DL1 KIR3DS1 MBL2 MKI67 NEFM PLA2G2A PPIA PRF1 SERPINA1 TLR3	1234 1555 2214 2638 30835 3106 3107 3117 3119 3123 3458 355 3577 3586 3811 3813 4153 4288 4741 50615 5243 5265 5320 5478 5551 6059 6352 6356 7098 729230 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 AKT3 APC ARNT C4A C4B CA9 CDH1 COMT CSF1R CTLA4 CYP1A1 ERBB2 FAS FLCN FTO HAVCR2 HLA-DRB1 HNF1A HOXB13 IL1RN IL2 IL4R JUP KDM4C KIT LTF MAP2K1 MET MMP1 MMP3 NR3C1 OGG1 PAK1 PBRM1 PDGFRB RELA SLC49A4 STAT3 TFE3 TGFB1 THRA TNF TNFRSF10A WIF1 XRCC1	10000 10481 11197 1312 1436 1493 1543 201163 2064 23081 2908 3123 324 355 3557 3558 3566 3728 3815 405 4057 4233 4312 4314 4968 5058 5159 5243 55193 5604 5970 6774 6927 7030 7040 7067 7124 720 721 7515 768 79068 84868 84925 8797 9429 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 IGF1R	3480 5243 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ABCB1 ABCG8 APOB APOC2 CCL2 HSPA1B LPL	3304 338 344 4023 5243 6347 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	ABCB1 ACE ADIPOQ ALB ALDH2 ALX4 APC APOC3 ARID1A ARID2 ASS1 BMI1 CALR CAT CBX4 CCL2 CCL5 CDH1 CDK13 CEP164 CLPTM1L CSF1R CTLA4 CTNNB1 CYP2C19 CYP2E1 DICER1 EFTUD2 EGF ERBB4 ERN1 EZH2 FGFR1 FGFR2 FLT3 FOXA1 FUBP1 G6PC1 GC GPX1 GPX3 HAVCR2 HFE HILPDA HLA-DPA1 HLA-DQA1 HLA-DQB1 HNF1A HNRNPAB HRAS IFNA2 IFNL1 IGF1R IGF2 IGF2R IL10 IL12A IL21 IL2 IL6 JAK1 KDM6A KDR KIF1B KIR3DS1 KLF4 KMT2B LEP LEPR LRP1B MAP4K4 MBL2 MCM7 MDM2 MET MPO MTDH MYD88 NFE2L2 NFKB1 NRAS PDCD1 PDGFRL PIK3CA PINX1 PLCG1 PNPLA3 PPARA PRDM1 PTGS2 PTPN13 RECQL RNF43 RYR3 SF3B1 SF3B4 SLC38A1 SLC7A5 SMARCA4 SMC3 SMO SNRPE SOAT2 SOD2 SOX30 SPAG9 SPOCK1 SPOP SPP1 SRSF2 STAT4 TEP1 TERT TET2 TLR2 TLR4 TLR9 TNF TP53 TRAF7 TYMS VEGFA WNT2 XPO1 XPO5 XRCC1 ZFHX3	10262 11063 1436 1493 1499 1557 1571 1636 1950 196528 2066 2081 213 2146 217 2260 2263 22897 23095 2322 23405 23451 2538 2638 282618 2876 2878 29923 3077 3113 3117 3119 3169 3182 324 3265 3440 345 3480 3481 3482 3558 3569 3586 3592 3716 3791 3813 3952 3953 4153 4176 4193 4233 4353 445 4615 463 4780 4790 4893 5133 5157 5243 5290 5335 53353 54106 5465 54790 54894 54984 5743 57510 5783 59067 5965 60529 6263 6347 6352 639 6427 648 6597 6608 6635 6648 6695 6696 6775 6927 7011 7015 7097 7099 7124 7157 7298 7403 7422 7472 7514 7515 80339 81037 811 8140 81539 8289 8405 84231 8435 847 84868 8535 8621 8880 9043 9126 92140 9314 9343 9370 9448 9757 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE CCL2 CCR5 CTLA4 CYP1A1 DHCR7 FCGR3A HLA-B HLA-DQB1 HLA-DRB1 ICAM1 IL10 IL21R IL23R IL2 IL4 ITGA2 MBL2 NAT2 NOD2 NOS3 PROZ SLC11A1 STAT3 STAT4 TGFB1 TLR2 TLR4 TNF VIM VWF	10 1234 149233 1493 1543 1636 1717 2214 3106 3119 3123 3383 3558 3565 3586 3673 4153 4846 50615 5243 6347 64127 6556 6774 6775 7040 7097 7099 7124 7431 7450 8858	Homo sapiens (human)	Alliance of Genome Resources
DOID:2987	familial Mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABCB1 ACE CYP3A4 MEFV NOD2 POMC SERPINE1 TLR4	1576 1636 4210 5054 5243 5443 64127 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:9976	heroin dependence	ABCB1 ACHE ADRA1A ALDH2 CHRM2 COMT CREB1 CYP2B6 CYP2C19 DRD2 DRD4 GABBR1 GABRB3 GABRG2 GAD1 GAD2 GDNF GRIN2A HTR3A NGF NPY1R NR3C1 NTRK2 OPRD1 OPRK1 OPRM1	1129 1312 1385 148 1555 1557 1813 1815 217 2550 2562 2566 2571 2572 2668 2903 2908 3359 43 4803 4886 4915 4985 4986 4988 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABCB1 ACHE BCHE CP FCGR2A FCGR3A GDNF GRIA1	1356 2212 2214 2668 2890 43 5243 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:9974	drug dependence	ABCB1 ACHE COMT CYP2B6 NCAM1 OPRM1	1312 1555 43 4684 4988 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1849	cannabis dependence	ABCB1 ACHE COMT NRG1	1312 3084 43 5243	Homo sapiens (human)	Alliance of Genome Resources

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