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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 **4226 - 4250** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	CAPZB CDC42 COL11A2 COL2A1 COLEC11 FLNB GDF6 GOLGB1 MTHFD1 NECTIN1 ROR2 SDC2 SPECC1L UFD1	1280 1302 2317 23384 2804 392255 4522 4920 5818 6383 7353 78989 832 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	CCR5 CIITA HFE HLA-DQA1 HLA-DQB1 HLA-DRB1 HSPD1 IL1A IL2 IL6 LACC1 MBL2 SELP SLC11A1 SLC26A2 THBD	1234 144811 1836 3077 3117 3119 3123 3329 3552 3558 3569 4153 4261 6403 6556 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	MAP2K6 MAPT OGG1 SOD1 TARDBP	23435 4137 4968 5608 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:680	tauopathy	CD2AP ENAH EVL MAP4 MAPT SH3KBP1 SNRPB VASP	23607 30011 4134 4137 51466 55740 6628 7408	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:6846	familial melanoma	MC1R MITF TERT	4157 4286 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	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:693	dental enamel hypoplasia Aliases: enamel hypoplasia	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	COL15A1 COL18A1	1306 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	HADHB IARS2 LARS2 LETM2 MARS2 NDUFS1 SLC25A6 UQCRFS1 VARS1 WARS2 YME1L1	10352 10730 137994 23395 293 3032 4719 55699 7386 7407 92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	AVPR1B USP8	553 9101	Homo sapiens (human)	Alliance of Genome Resources
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	APOA4 ND3 ND5 SOD2 TP53	337 4537 4540 6648 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	ACE ADIPOQ ANO6 ASPN CYP1A1 FCGR3A HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 IGFBP3 IL17A IL23R IL6 IRAK1 PGF PTGER4 TAP1 THBD TLR4 TLR5 TNFRSF1B	149233 1543 1636 196527 2214 3106 3117 3119 3123 3486 3569 3605 3654 5228 54829 5734 6890 7056 7099 7100 7133 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:7166	thyroiditis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	CTLA4 TSLP	1493 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CTLA4 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL4 LRP2 MBL2 TG TLR3	1493 3117 3119 3122 3123 3458 3565 4036 4153 7038 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:7235	pancreatic mucinous cystadenoma Aliases: pancreatic mucinous cystic neoplasm	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:7319	axonal neuropathy	AARS1 AARS2	16 57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	SERPINE1 UGT1A1	5054 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	NBN	4683	Homo sapiens (human)	Alliance of Genome Resources
DOID:7427	anthrax disease	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources

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