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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 **4826 - 4850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ACE ALG8 ALG9 APRT ARF4 B3GLCT CALR CD14 COMT CPT2 CYP4A11 DCN DHCR7 GANAB GLA GPC3 HAGH INPP5E KL LGALS3 LRP5 PGD PGP PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKAA2 PRKCSH PTGS1 PTGS2 SELE SEMA7A SMC3 SMUG1 SOAT1 UMOD XYLT2	114780 1312 1376 145173 1579 1634 1636 1717 23193 23556 23583 2717 2719 283871 3029 342372 353 378 3958 4041 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5563 5589 56623 5742 5743 6401 64132 6646 7369 79053 79796 811 8482 9126 929 9365	Homo sapiens (human)
DOID:1407	anterior uveitis	LACC1 TLR2 TLR4 TNF	144811 7097 7099 7124	Homo sapiens (human)
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	ACAT1 ACO2 ACOX1 ACSL4 ALDH5A1 ALG13 ALG14 ARSD B3GALNT2 COG5 CYB5R3 DAG1 DBT DGKK DPAGT1 ECHS1 FKRP FKTN FUCA1 GCK GMPPB HMGCL IL1RAPL1 IMPA1 L1CAM L2HGDH LARGE1 LMAN2L MAN1B1 MBOAT7 MGAT2 MRC1 NAGA NAGLU NANS NDST1 PDHA1 PGAP1 PGAP2 PGAP3 PIGC PIGL PIGO PIGV PIGW PIGY POMGNT1 POMT1 POMT2 PPT1 RFT1 SDHA SLC35A2 SLC35A3 SMC3 SRD5A3 ST3GAL3 ST3GAL5 SUCLG1 TECR TUSC3	10466 10585 11141 11253 139189 148789 1605 1629 1727 1798 1892 199857 2182 2218 23443 2517 2645 27315 284098 29925 29954 3155 3340 3612 38 3897 414 4247 4360 4668 4669 50 51 5160 5279 54187 5538 55624 55650 6389 6487 7355 79143 79147 7915 79644 79868 7991 79944 80055 81562 84720 84992 8802 8869 9126 91869 9215 93210 9487 9524	Homo sapiens (human)
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	CD44 G6PD LMAN1 MAN2A1 MCFD2 MGAT2	2539 3998 4124 4247 90411 960	Homo sapiens (human)
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:84	osteochondritis dissecans Aliases: OCD	ACAN COL9A2 COMT TPI1	1298 1312 176 7167	Homo sapiens (human)
DOID:14555	Foster-Kennedy syndrome	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	ACACA ACAT1 ACE ACLY ACSBG1 ACSL1 ACSL4 ACSS2 ADH1B ADH1C AGL AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ART1 ASAH1 ATRNL1 B3GALT5 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BPHL BRAF C1GALT1 CA4 CALR CAT CBR1 CD248 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 COMT CSGALNACT1 CTBS CYB5R1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP EFNA1 ENO1 ENPP3 ENPP7 FADS1 FASN FBP1 FH FMOD FOLR1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT7 G6PD GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GLTP GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPIN1 LYNX1 LYPD5 MACROD2 MBD4 MBL2 ME1 MGLL MICA MMP25 MMUT MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NEU3 NTNG1 OGA OGG1 OLR1 PARG PARP1 PCYT1A PCYT1B PFKFB3 PGK1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD2 PLD4 PLEKHA8 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPIA RPN2 SCD SDC1 SDC2 SDC4 SELE SELL SELP SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC1 STT3A SULT1E1 SYNJ2 TDG TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UNG VCAM1 VCAN VNN1	100507436 1012 10135 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 126 1312 140733 142 1462 146712 1486 151056 1543 1544 1571 1576 1581 1588 1591 1594 1605 1607 1634 1636 166929 1717 1718 1738 178 1800 1836 1890 192134 1942 2023 217 218 2180 2182 219 2194 220 2203 2271 22854 22914 22933 22934 231 23175 23205 2331 23423 2348 23583 23600 23659 240 246 250 2523 2524 2525 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3965 3990 3992 4051 410 4153 417 4199 427 4360 4507 4534 4594 4595 4680 47 4860 4968 4973 501 50487 51228 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56848 56913 56983 56994 570 57016 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6385 6401 6402 6403 64083 64386 6470 6472 6480 6484 6514 6515 6517 6518 6519 66004 6609 6646 670 673 6783 6996 7086 7108 7355 7367 7374 7412 762 7941 7991 79947 80328 811 8277 8394 8399 84076 8434 847 84725 8505 8525 8526 85329 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 9104 9126 9245 93010 9365 9420 9468 9536 960	Homo sapiens (human)
DOID:4594	microcystic meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:2649	chondroblastoma Aliases: Chondroblastoma of bone	ACAN EXT1 IDH2 PTGS2	176 2131 3418 5743	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:3042	allergic contact dermatitis	ACE CD1D CNTN3 CYP1A1 ELOVL6 FCGR3B HSD11B1 MRC1 NAMPT SDC1 SELE SLC2A3 ST6GAL1 TLR4 UPP1	10135 1543 1636 2215 3290 4360 5067 6382 6401 6480 6515 7099 7378 79071 912	Homo sapiens (human)
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI PMM2	4351 5373	Homo sapiens (human)
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:0110253	cataract 14 multiple types Aliases: CTRCT14	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	GAPDH	2597	Homo sapiens (human)
DOID:13739	nutmeg liver Aliases: chronic passive congestion of liver	ABO ACACB ACADS ACAT1 ACAT2 ACE ACHE ACSS2 ADH1C AKR1A1 AKR1B1 ALDH2 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ASGR1 CAT CD14 CD44 CDH13 CEL CHI3L1 CHIT1 CLEC1B CLEC7A COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DHCR7 EBP EFNA5 ENPP1 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FDPS FUT3 GALNT2 GALNT3 GCK GGT1 GLO1 GLUL GPD1L GPIHBP1 GPLD1 GPX1 GPX3 HPGDS HPSE2 HPSE HSD11B1 HSPG2 ICAM1 IL1RL1 ISYNA1 ITLN1 KL LCAT LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL MBL2 MCFD2 MGAM MPI MTAP NAMPT NCAM1 NDST4 NDUFAB1 NT5E OGG1 OLR1 OXCT1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G5 PLA2G6 PLA2G7 PLB1 PLPP3 PRKAA2 PTEN PTGDS PTGS1 PTGS2 RENBP RPN1 SCD SELE SELL SELP SFTPD SI SIGLEC1 SIRT4 SIRT6 SLC33A1 SLC35G1 SLC5A1 SMPD1 SMUG1 SOAT1 SOAT2 SRGN ST6GALNAC5 ST8SIA4 TM7SF2 UGT1A1 UGT1A6 UMOD VCAM1	1012 10135 10162 10327 1056 10682 10855 1116 1118 120227 126 1312 151056 1543 1555 1557 1558 1559 1571 1573 1577 1579 1581 1585 1586 1588 1593 159371 1636 1717 1946 2053 2137 217 2215 2224 231 23171 23409 23583 23659 240 247 249 2525 2590 2591 2645 2678 27306 2739 2752 28 2822 2876 2878 308 32 3290 3339 3383 338328 35 353 38 39 3931 3957 3958 3988 3990 3992 3998 4023 410 4153 43 432 4351 4507 4684 4706 4907 4968 4973 5019 51266 5130 51477 51548 5167 5286 5290 5291 5293 5294 5310 5319 5320 5322 54578 54658 5552 55600 5563 55902 5728 5730 5742 5743 5973 60495 6184 6319 6401 6402 6403 6441 64579 64581 6476 6523 6609 6614 6646 7108 7369 7412 7903 7941 81849 8398 8399 8435 847 8529 8613 8972 90411 9173 9197 929 9365 9388 9415 960	Homo sapiens (human)
DOID:5386	lung adenoma Aliases: adenoma of lung pulmonary adenoma	CD44 CYP2B6 UPP1	1555 7378 960	Homo sapiens (human)
DOID:607	paraplegia Aliases: Paraplegia, lower	AKT1 ALDH3A2 B3GALT6 B4GALNT1 CEACAM5 CNTN3 CPT1C CYP27A1 CYP2U1 CYP7B1 GALC GBA2 GBE1 HS6ST1 HSD17B6 L1CAM MAG PDHX PNPLA6 PRPS1 PSAP SLC33A1	1048 10908 113612 126129 126792 1593 207 224 2581 2583 2632 3897 4099 5067 5631 5660 57704 8050 8630 9197 9394 9420	Homo sapiens (human)
DOID:3076	adult astrocytic tumor Aliases: adult astrocytic tumour adult astrocytoma	CHST15 ENPP1 IDH1 IDH2 LGALS3	3417 3418 3958 51363 5167	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)
DOID:8456	choline deficiency disease Aliases: choline deficiency	MLYCD PEMT	10400 23417	Homo sapiens (human)

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