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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 **15176 - 15200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	CDKN1B DLST SDHA SDHAF2 SDHB SDHC SDHD SLC25A11	1027 1743 54949 6389 6390 6391 6392 8402	Homo sapiens (human)	Alliance of Genome Resources
DOID:5223	infertility	ATM BRCA2 CDC23 CDKN1B CSF1R ESR1 METTL3	1027 1436 2099 472 56339 675 8697	Homo sapiens (human)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	AMACR APEX1 AREG ATM AURKB BTG2 CDKN1B CREB3L4 CSF1R CYP19A1 ESR1 FGF6 FGF8 FLT1 FZD4 HDAC1 LEF1 LRP1 MAP2K4 MAP2K6 PHB1 PRSS8 PTGS2 RELA SMAD4 ST14	1027 1436 148327 1588 2099 2251 2253 2321 23600 3065 328 374 4035 4089 472 51176 5245 5608 5652 5743 5970 6416 6768 7832 8322 9212	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 ACE AGT AKT1 BCR CASP6 CD36 CD40 CDKN1B CRKL CYP1A1 CYP3A5 DNMT1 E2F1 EZH2 FAS FASLG FCGR2A FGFR3 GPX1 HES1 HLA-DQA1 HLA-DQB1 IL10 IL1RN MDM2 NCSTN PECAM1 SIPA1 SMAD4 STAT5A TERT TGFB1 USP15 VEGFA XRCC1	1027 1244 1399 1543 1577 1636 1786 183 1869 207 2146 2212 2261 23385 25 2876 3117 3119 3280 355 3557 356 3586 4089 4193 5175 5243 613 6494 6776 7015 7040 7422 7515 839 9429 948 958 9958	Homo sapiens (human)	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	ANGPT2 CCL2 CCN2 CCR6 CDKN1B CFB CFH CXCR1 EDN1 EP300 F5 FN1 MYOC PFN1 PRF1 SPARC TGFBR2 TSLP	1027 1235 1490 1906 2033 2153 2335 285 3075 3577 4653 5216 5551 629 6347 6678 7048 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	ACVR1B APOA1 APOC3 ATM ATRX CDKN1B CHRNA3 CHRNA5 CHRNA9 CHRNB4 CSF1R CYP24A1 DLL4 E2F1 EEF2 FAT1 FOXA1 GRP ITGB1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MTOR NOTCH1 PBRM1 PTK2 RARB RICTOR SKP2 XPO5	1027 1136 1138 1143 1436 1591 1869 1938 2195 2475 253260 2922 3169 335 345 3688 3909 3914 3918 472 4851 54567 546 55193 55584 5747 57510 5915 6502 7403 8085 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	ABCB1 APOC3 BMP7 BRCA2 CD44 CDKN1B CTNNB1 CXCR2 ERBB2 FLT1 FZD7 GPC3 HIF1A IGF1R IGF2R JUP KDM4D KIT LIN28A MYC PAK1 PCNA PTGS2 REST SERPINF1 SIX1 SLC2A1 STAT1 STAT3 TERT TOP2A VEGFC WIF1	1027 11197 1499 2064 2321 2719 3091 345 3480 3482 3579 3728 3815 4609 5058 5111 5176 5243 55693 5743 5978 6495 6513 655 675 6772 6774 7015 7153 7424 79727 8324 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	CDKN1B CHGA DMBT1 HSD17B10 L1CAM RET SDHA SDHB	1027 1113 1755 3028 3897 5979 6389 6390	Homo sapiens (human)	Alliance of Genome Resources
DOID:1324	lung cancer	ACE ACSL3 ALX4 ATR CA12 CALR CCDC116 CDKN1B CFTR CHD4 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COMT CSF1R CTNNB1 CYP1A1 CYP24A1 DAGLA DNMT1 DVL3 EGFR ERBB2 ERCC5 ERCC6 ESCO2 EZH2 FASLG FGF9 FOXA1 FOXM1 GPX1 GPX3 HP HPR HS3ST2 IDH2 IL1R2 IRS4 KRAS LRP1B MAP2K4 MAT2A MBD4 MBL2 MEF2D MKI67 MLH1 MMP1 MMP3 MPO MPZL3 MSH2 MYC MYD88 NCOA6 NFKB1 NOD2 PIK3CA POLE PRDM1 PTGS2 RAC1 RBM10 RECQL RICTOR RNASET2 ROBO1 SETDB1 SFTPB SLCO1B3 SOD2 SOX30 SOX9 SRSF6 STIM1 TERT TNC TPR TRIT1 TRPC4 TRPC7 TTR XPC XRCC1 XRN2	1027 1080 11063 1108 1136 1138 1139 1143 1312 1436 1499 1543 157570 1591 1636 164592 1786 1857 1956 196264 2064 2073 2074 2146 2181 2254 22803 2305 23054 253260 28234 2876 2878 3169 3240 3250 3371 3418 356 3845 4144 4153 4209 4288 4292 4312 4314 4353 4436 4609 4615 4790 5290 53353 5426 545 54802 57113 5743 5879 5965 60529 6091 639 64127 6416 6431 6439 6648 6662 6786 7015 7175 7223 7276 747 7508 7515 771 7850 81037 811 8241 8471 8635 8930 9869 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ABCA4 APOE BAD BAX BMP4 C2 C3 CCL2 CCR2 CD36 CDKN1B CFB CFH CFI CRYAB EFEMP1 ELN ERCC6 ESR1 FAS HSPA8 IL17A KDR MMP2 MMP9 NFE2L2 PON1 PPARGC1A PRPH2 SERPINE1 SERPINF1 SERPING1 SIRT1 SOD1 SRSF10 TLR4 TRA2B	1027 10772 10891 1410 2006 2074 2099 2202 23411 24 3075 3312 3426 348 355 3605 3791 4313 4318 4780 5054 5176 5444 572 581 5961 629 6347 6434 652 6647 7099 710 717 718 729230 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:3021	acute kidney failure	ACE ADRB2 AGER ALOX5 AMBP ANXA1 AR AVPR1A AZGP1 B2M BAD BAX CAPN1 CDKN1B CLU CYP27B1 CYP2E1 ECE1 EGF EGFR EPAS1 EPO FAS FGA FN1 GFER GPX3 HAVCR1 HBEGF HDAC3 HES1 HIF1A HP HPR HSPA8 ICAM1 IGF1R IL1RN IL6 LCN2 LGALS3 MET MPO MTOR NDUFB8 NES NFE2L2 NOS1 NOS3 NPPA NPPB PKD2 PLAT PPARG PROC PROCR PTAFR PTGER4 PTGS2 RB1 REN SERPINC1 SIRT1 SLC22A1 SLC22A2 TGFA THBD TLR4 TNFRSF1A TNFRSF1B UTS2R WNT4	1027 10544 10763 1191 154 1571 1594 1636 177 1839 1889 1950 1956 2034 2056 2243 2335 23411 240 2475 259 2671 26762 2837 2878 301 3091 3240 3250 3280 3312 3383 3480 355 3557 3569 367 3934 3958 4233 4353 462 4714 4780 4842 4846 4878 4879 5311 5327 54361 5468 552 5624 563 567 572 5724 5734 5743 581 5925 5972 6580 6582 7039 7056 7099 7132 7133 823 8841	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:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	Bmp1 Col1a1 Col1a2 Phldb1 Smad4	102693 12153 12842 12843 17128	Mus musculus (house mouse)	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:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	AGER AMBP C3 C3AR1 C5 C5AR1 EDN1 F3 HSPA4 ICAM1 IL10 IL15 IL1RN IL9 LEP LTA MBL2 MMP9 MUC1 MYLK NPPB PDPN PLA2G2A PLAU RAMP2 RIPK3 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SOD2 TBXA2R THBD TNF TNFRSF1A TNFRSF1B	10266 10630 11035 12 177 1906 2152 259 3308 3383 3557 3578 3586 3600 3952 4049 4153 4318 4582 4638 4879 5054 5320 5328 6439 6440 6441 653509 6648 6915 7056 7124 7132 7133 718 719 727 728	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	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:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	102580	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	Alg12 Alg1 Alg5 Alg6 Alg8 Alg9 Dpm1 Dpm2 Mpi Pmm1 Pmm2	102580 110119 13480 13481 208211 223774 29858 320438 381903 54128 66248	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ABCA1 ABCC4 CYP27A1 CYP7A1 CYP8B1 HMGCS2 HNF1A LGALS1 NFE2L2 OPRM1 PDGFRB SETD7 SLC22A1 SLC22A2	10257 1581 1582 1593 19 3158 3956 4780 4988 5159 6580 6582 6927 80854	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:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AAAS HLA-DQA1 HLA-DQB1 LMNA NOS1 SPRY2 VIPR1	10253 3117 3119 4000 4842 7433 8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP35 PTEN SPRY2	10253 129401 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ACE ACSM3 ADD1 ADD2 AGTR1 AGTR2 B4GALT1 C3 CCL2 CCR6 CD14 CFB CHGA CXCR2 FAS FCAR FCGR3A FN1 HAVCR1 HLA-DQB1 IGF1R IL1A IL1RN LCN2 MMP14 MTR MUC20 NGF PDE5A PLA2G7 SELE SELL SERPINB7 SHH SPRY2 STAT4 TLR1 TLR9 TNF TNFRSF1A TNFRSF1B TNFSF13B TNFSF14	10253 10673 1113 118 119 1235 1636 185 186 200958 2204 2214 2335 26762 2683 3119 3480 355 3552 3557 3579 3934 4323 4548 4803 54106 629 6296 6347 6401 6402 6469 6775 7096 7124 7132 7133 718 7941 8654 8710 8740 929	Homo sapiens (human)	Alliance of Genome Resources

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