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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2051 - 2075** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	AGXT CYP4F3 GAS1 SPTLC1 SPTLC2	10558 189 2619 4051 9517	Homo sapiens (human)
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	Homo sapiens (human)
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GLB1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2720 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)
DOID:0050580	hereditary lymphedema	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)
DOID:0070212	hereditary lymphedema I Aliases: LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1 TNF	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 7124 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	ACSM3 CPO	130749 6296	Homo sapiens (human)
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:0050951	hereditary ataxia	HSD17B4 PRNP	3295 5621	Homo sapiens (human)
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E	4907	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ABO ACE HS3ST6 MASP2 MBL2 SMUG1 VCAM1 XPNPEP2	10747 1636 23583 28 4153 64711 7412 7512	Homo sapiens (human)
DOID:11823	hepatorenal syndrome	TLR4 TNF VCAM1	7099 7124 7412	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	ABO ACAA1 ACAA2 ACACA ACADL ACADS ACADSB ACAN ACAT1 ACAT2 ACE ACER3 ACHE ACLY ACO1 ACO2 ACOT12 ACOT1 ACOT7 ACOT8 ACOX1 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSM3 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADIPOQ AGA AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALDOB ALDOC ALG1 ALOX12 ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APEX1 APRT ARSF ART1 ASGR1 ATP6AP2 ATRNL1 B3GALNT2 B3GALT5 B3GALT6 B3GAT3 B4GALNT1 B4GALT1 B4GALT7 BAAT BCKDHB BDH2 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CEL CEMIP CERS4 CHI3L1 CHKA CHPT1 CHST11 CHSY1 CLEC10A CLEC1B CLEC2B CLEC4G CLEC7A COG8 COLEC10 COMT CPT1A CPT1B CPT2 CRLS1 CRYL1 CSPG4 CTBS CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP3A7 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP51A1 CYP7A1 DCN DCXR DGAT2 DGKG DGKK DGKQ DHCR24 DHCR7 DHDDS DHDH DLAT DLD DPAGT1 DPEP1 DSE EBP ECHS1 EFNA1 EFNA5 EHHADH ELOVL2 ELOVL4 ELOVL6 ENO1 ENPP1 ENPP2 ENPP3 ETNPPL EXT1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN2 FCN3 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PC1 G6PD GAL3ST1 GALK1 GALNT10 GALNT14 GALNT1 GALNT2 GALT GAPDH GBA3 GCK GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GGT5 GLB1 GLDC GLO1 GLUL GMDS GNMT GNPAT GOLPH3 GPAA1 GPC1 GPC2 GPC3 GPC5 GPD1 GPI GPNMB GPX1 GPX2 GPX3 GUSB GYS2 HACD1 HAO2 HAS1 HAS3 HJV HK1 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2 IGF2R IL18R1 IL1RAP IL1RAPL1 IL1RL1 IL6ST INPP4B INPP5D INPP5E INPP5K INPPL1 ISYNA1 KAT2B KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LARGE1 LCAT LDHA LDHB LEP LEPR LGALS1 LGALS3 LGALS4 LGALS9 LPCAT1 LPCAT3 LPIN1 LPL LYPD5 LYZ MACROD1 MACROD2 MAN1A2 MAN1B1 MAN2A1 MASP2 MBD4 MBL2 MBOAT7 MCAT ME1 MGAT1 MGAT3 MGAT5 MGAT5B MGLL MICA MMUT MOGAT2 MPG MRC1 MSLN MTAP MTMR14 MUTYH NAAA NAMPT NANS NCAM1 NCAN NEIL1 NEIL2 NEIL3 NEU1 NT5E NTM OGA OGDHL OGG1 OGT OLR1 OPCML OXCT1 PAFAH1B1 PAPSS1 PARG PARP10 PARP12 PARP14 PARP1 PARP2 PARP9 PC PCK1 PCK2 PCNA PCYT1A PCYT1B PDHA1 PDIA3 PEMT PFKFB3 PFKFB4 PFKL PFKM PGAM1 PGD PGK1 PGM1 PGM5 PGP PI4KA PIGK PIGS PIGU PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4D PLA2G6 PLAUR PLB1 PLCB1 PLCB2 PLCE1 PLCG1 PLCG2 PLOD3 PLPP5 PNLIPRP3 PNP PNPLA2 PNPLA3 POFUT1 PPARA PPAT PPP1R3C PPT1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 PYGL QTRT1 RECK RENBP RGMB RGN RPE RPIA RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDHA SDHB SDHC SDHD SELE SELENOI SELL SELP SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A4 SLC35C1 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SORD SPHK1 SPHK2 SPTLC2 SQLE SRD5A2 SRGN ST3GAL3 ST3GAL4 ST3GAL5 ST3GAL6 ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SULT2B1 TALDO1 TEX101 THEM4 TIGAR TKT TKTL1 TKTL2 TLR2 TLR4 TM7SF2 TMED3 TMED5 TMED6 TMEM165 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UAP1 UAP1L1 UGCG UGDH UGP2 UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B15 UGT2B28 UGT2B4 UGT2B7 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1	10005 10026 10038 100507436 1012 10135 10159 10162 10232 10317 10327 10400 10402 10449 10457 10462 1048 10559 1056 10584 10682 10690 10724 10747 10855 1087 10905 10998 1109 11141 1116 11181 1119 11253 11285 11332 11343 113829 115290 117145 119548 120227 124 125 126 126792 127 128 128869 130 1312 134526 135228 1374 1375 1376 139189 140733 142 1462 1463 1464 146456 146664 1486 148738 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1583 1586 1588 1589 1591 1593 159371 1594 1595 1608 1609 1634 1636 1645 1646 170384 1717 1718 1737 1738 175 176 1798 1800 189 1890 1892 1942 1946 1962 2023 207 208 2131 217 218 2180 2181 2182 219 2194 2203 2215 221914 2220 2222 226 2262 22856 229 22914 22933 22934 230 231 23175 23205 23213 23236 23409 23423 2348 2350 23509 23583 23600 23659 239 240 248 250 2523 2524 2526 2527 2528 2529 252969 2530 2538 2539 2542 2583 2584 2589 2590 2592 2597 26033 26229 2645 26503 2673 2674 2675 2678 2683 2687 27163 2719 2720 27232 27294 27306 2731 27349 2739 2752 276 2762 277 278 28 2817 2819 2821 283748 283871 284348 284541 285704 2876 2877 2878 28992 29071 2923 2990 29940 2998 30 3036 3038 307 308 3098 3099 31 310 3157 3158 3161 3251 328 3284 3290 3291 3292 3294 3295 33 3339 3383 339390 3417 3418 3425 3481 3482 35 353 3556 3572 36 3635 3636 3795 38 3820 3821 3824 3897 39 3931 3939 3945 3952 3953 3956 3958 3960 3965 3992 4023 4051 4069 412 4124 4153 416 417 4199 4245 4248 4249 43 432 4350 4360 4507 4594 4595 4684 47 4758 48 4860 4907 4968 4973 4978 50 501 5019 5048 50515 50863 5091 50999 51 5105 5106 51084 5111 51179 51181 51196 51266 5130 51302 51477 51548 5160 5167 5168 5169 51763 5209 5210 5211 5213 5223 5226 5230 5236 5239 5287 5290 5291 5293 5294 5297 5313 5315 5319 5320 5321 5329 5330 5335 5336 54187 54490 54575 54577 54578 54600 54625 5465 54658 54675 5471 54898 5507 55247 55331 55343 5538 55512 5552 55568 5563 55753 55858 5589 55902 55959 56052 5621 5631 5652 5660 56623 56848 56898 56913 56994 570 57016 57103 57104 57124 5716 57214 5728 5742 5743 57733 5836 594 5973 6120 6185 6296 6319 6382 6383 6389 6390 6391 6392 6401 6402 6403 64083 641371 64419 64581 6470 6472 64761 6480 6484 64850 6487 65078 6514 6515 6517 6518 6523 6609 6610 6646 6652 6675 6713 6716 6783 6785 6820 684 6888 7086 7097 7099 7108 7124 7157 7167 7357 7358 7360 7363 7364 7366 7368 7372 7374 7412 781 7903 79071 79143 79603 79623 79661 79679 79888 7991 79947 79966 80168 80329 80339 811 81890 821 8277 8309 83639 83666 8398 8399 84076 8434 84342 8435 8443 84513 84649 847 8473 84750 84875 8505 8529 8540 85465 8547 8644 8658 873 8733 8794 8809 8821 8850 8869 8877 8930 8985 9061 9104 912 9126 91373 9173 9197 9200 9215 9245 929 933 9365 9370 94005 9415 9468 9514 9517 952 9536 960 9672 972 98 9976	Homo sapiens (human)
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)
DOID:687	hepatoblastoma	ACOX2 AKR1B1 ALDOC APRT BAAT CAT CD44 CYP1A1 CYP1A2 CYP2B6 CYP3A4 CYP4F3 CYP7A1 DPEP1 G6PD GLB1 GLUL GPC3 HK1 HMGCS1 HPRT1 HSPG2 ICAM1 IL1RL1 LPIN1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PPAT PSMD10 PTEN PTGS2 RGN SELENOI SLC33A1 SLC35G1 SLC37A4 SMUG1 SOAT1	142 1543 1544 1555 1576 1581 159371 1800 230 231 23175 23583 2539 2542 2719 2720 2752 3098 3157 3251 3339 3383 353 4051 5290 5291 5293 5294 5471 570 57104 5716 5728 5743 6646 8309 847 85465 9104 9173 9197 960	Homo sapiens (human)
DOID:3118	hepatobiliary disease Aliases: liver and biliary tract disease	AKR1B1	231	Homo sapiens (human)
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO ACACA ACADM ACE ACOT7 AKR1D1 ALDH2 ALDOB ALPP APRT ARSH ATRNL1 B4GALT1 BDH1 BST2 CALR CAT CD14 CD1D CD44 CD74 CEL CFC1 CHI3L1 CHPT1 CHST3 CLEC7A COLGALT2 CPT1A CPT1B CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP7A1 CYP7B1 DLAT ECHS1 ENPP2 EXT1 FADS2 FBP1 FCGR3B FUT8 G6PD GGT1 GPC3 GPI GPNMB GPX1 GUSB HADH HAS1 HAS3 HKDC1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 ICAM1 IL1R1 IPMK KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 LIPC LTC4S MBL2 MBOAT7 MGLL MICA MPPE1 NAMPT NCAM1 NCAN NT5E OGG1 PARP1 PARP2 PARP9 PC PDIA3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLD4 PMM1 PNPLA3 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RGN SDC1 SELP SGMS1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SMPD1 SMUG1 SOAT1 SPHK1 ST6GAL1 SULF1 TIPARP UGT1A1 UGT2B7 UMOD VCAM1	10038 100507436 10135 10457 1056 10998 1116 11332 11343 122618 1374 1375 1376 142 1463 1544 1545 1555 1557 1559 1571 1576 1581 1583 1584 1586 1588 1589 1593 1636 1737 1892 2131 217 2203 2215 229 22914 22933 23127 23213 23583 250 2530 253430 2539 259230 25976 26033 26503 2678 2683 27036 27180 2719 27306 28 2821 2876 2923 2990 3033 3036 3038 31 3284 3291 3293 3383 34 347527 353 3554 3820 3821 3956 3958 3965 3990 4056 4153 4684 4907 4968 5091 51548 5168 5236 5290 5291 5293 5294 5372 54658 5563 55997 56994 5716 5728 5742 5743 622 6382 6403 64581 6480 65258 6609 6646 6718 684 7364 7369 7412 79143 80201 80339 811 83666 847 8630 8877 9104 912 929 9415 9420 9469 9536 960 972	Homo sapiens (human)
DOID:4411	hepatitis E	BST2 CYP1A1 EXT1 HPGDS HSPG2 PSAP	1543 2131 27306 3339 5660 684	Homo sapiens (human)

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