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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 **4401 - 4425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 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 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:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	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:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)
DOID:0080335	mitochondrial DNA depletion syndrome 12b	AGK CS	1431 55750	Homo sapiens (human)
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:2474	vernal conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)
DOID:670	amphetamine abuse	ACHE ACSL6 CD55 CDH13 COMT GAD1 GAD2 HS3ST4 LARGE1 NPY1R	1012 1312 1604 23305 2571 2572 43 4886 9215 9951	Homo sapiens (human)
DOID:0110723	neuronal ceroid lipofuscinosis 8 Aliases: CLN8	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0060165	Kleine-Levin syndrome	COMT SMUG1	1312 23583	Homo sapiens (human)
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)
DOID:11254	Brill-Zinsser disease Aliases: Brill Zinsser disease Brill's disease Recrudescent typhus	CS	1431	Homo sapiens (human)
DOID:4330	non-Langerhans-cell histiocytosis	LYZ NCAM1	4069 4684	Homo sapiens (human)
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)
DOID:9370	obsolete exophthalmos Aliases: proptosis	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)

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