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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 **5176 - 5200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11125	qualitative platelet defect Aliases: Qualitative platelet deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 PRNP SELP VCAM1 XYLT1	10855 1738 27163 3956 3964 4669 5319 5320 5621 60495 6403 64083 64131 7412 8398	Homo sapiens (human)
DOID:5139	cellular leiomyoma	LDHA	3939	Homo sapiens (human)
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	ACAN CANX COL9A2 DCN	1298 1634 176 821	Homo sapiens (human)
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 CYP2B6 GBE1	1555 2632 48	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:4284	anal margin carcinoma Aliases: Perianal skin carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)
DOID:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	SDC2	6383	Homo sapiens (human)
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	A4GNT ABO ACACA ACE ACHE ACLY ACO2 ACSL4 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGA AKR1A1 AKR1B10 AKR1B1 AKR1C3 ALDH1A3 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ALOX5 ALPP AMY2A ANXA4 ANXA5 ANXA7 APRT ARSF ARSI ATP6V1A BAAT BST2 CACNA2D1 CACNA2D3 CALR CANX CAT CBR1 CD14 CD177 CD1D CD248 CD33 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHPT1 CLEC1B CNTN1 COG2 COG8 COMT CPT1A CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DCN DHDDS DHRS11 DLD DPAGT1 EBP ECHS1 EFNA1 EFNA2 ENO1 ENOSF1 FADS1 FADS2 FASN FBP1 FBP2 FBXO2 FH FKTN FOLR1 FOLR2 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 GAL3ST1 GALE GALNS GALNT1 GALNT2 GALNT5 GALNT6 GAPDH GAS1 GBA3 GFPT1 GGT1 GLB1 GLDC GLO1 GLUL GOLPH3 GPAA1 GPC3 GPI GPNMB GPX1 GPX2 GPX3 GUSB HACD1 HAS1 HK1 HK2 HMMR HPGDS HPSE HS6ST2 HSD11B2 HSD17B1 HSD17B2 HSD17B7 HSD3B1 ICAM1 ICAM2 IDH1 IDH2 IDH3B IDUA IGF2R IL18R1 IL1RL1 INPP5K INPPL1 ISYNA1 ITLN1 KLRK1 L1CAM LDHA LGALS1 LGALS2 LGALS3 LGALS9 LIPF LMAN2 LYPD5 LYZ MBD4 MBL2 MBOAT7 MCAT MDGA2 MELTF MGAT5 MICA MMP25 MMUT MRC1 MSLN MTAP MTMR2 MTMR3 MUTYH NAGLU NAMPT NANS NCAM1 NEIL1 NEIL2 NEU1 NEU2 NGLY1 NT5E NTHL1 OARD1 OGG1 OGT OPCML PARP1 PCCA PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAP3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKD1 PKM PLA2G2A PLCD1 PLCE1 PLD1 PLPP1 PNPLA2 PPAT PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGS1 PTGS2 RECK RPN2 SARM1 SDC1 SDHB SDHC SDHD SELE SGPP1 SGPP2 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A4 SLC35B4 SLC3A2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST6GAL1 ST6GALNAC1 STS SUCLG1 SULF1 SULF2 SULT1E1 TDG TIGAR TKT TKTL1 TM7SF2 TMED6 TNKS TPI1 TYMP UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 ULBP1 UMPS UPP1 VCAM1 VCAN VTCN1	100507436 1012 10135 10232 10327 10457 1048 10682 10855 1087 10960 1113 1116 11226 11227 124 125 126 127 1272 128 130 130367 131 1312 1374 138429 142 1462 146456 1543 1544 1555 1557 1571 1576 1588 1604 161357 1634 1636 1738 175 1798 1836 1890 1892 1942 1943 2023 217 2182 2194 220 2203 221443 2218 2271 22796 229 22914 22933 23098 231 23213 23409 2348 2350 23583 239 240 246 250 2523 2524 2525 2526 2527 2528 252969 253782 2582 2588 2589 2590 2597 2619 26232 2673 2678 2719 2720 27306 2731 27349 2739 2752 279 28 2821 284348 2876 2877 2878 2923 2990 3036 307 308 3098 3099 31 310 3161 3283 3291 3292 3294 3383 3384 340075 3417 3418 3420 3425 3482 353 3636 3897 3939 3956 3957 3958 3965 3992 4051 4069 412 4153 416 4241 4249 43 4360 4507 4594 4595 4669 4680 4684 47 4758 4759 4907 4913 4968 4978 50 501 5095 51146 51196 51266 51477 51478 51548 5160 51763 5209 5210 5223 523 5230 5290 5291 5293 5294 5310 5315 5320 5333 5337 54187 54575 54576 54577 54578 54657 54658 5471 55556 55600 5563 55768 55799 55808 55902 55959 5621 5660 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57733 6185 6382 6390 6391 6392 6401 64083 64386 6472 6480 6487 6517 6520 6646 6783 684 6996 7086 7108 7167 7357 7366 7372 7378 7412 781 79143 79154 79611 79661 79679 79947 80329 811 81537 821 8277 8434 84342 847 8473 84912 8513 8611 8644 8658 873 8733 8789 8802 8809 8877 8897 8898 8930 90161 912 9173 9200 929 93210 9415 945 9514 960 972 98	Homo sapiens (human)
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:0060060	non-Hodgkin lymphoma	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALPP ANXA5 ANXA7 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 310 3383 3417 3418 347734 3482 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 929 933 945 952 960	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:2703	synovitis	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SCD SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6319 6385 6646 7412 960 9663	Homo sapiens (human)
DOID:2444	hyperpituitarism	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ABO ACE ACSM3 CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GAD1 GAD2 GCDH GLA GLUL GOT1 GPX1 GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PCNA PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGIS PTGS1 PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1 TNF UCP2	10135 1119 142 1557 1636 1718 2219 2539 2571 2572 2639 2717 2752 28 2805 2876 2878 3383 4056 4968 4973 5111 51548 5277 5290 5291 5293 5294 55512 5728 5740 5742 5743 6296 6402 6403 6783 7124 7351 7941 811 847 90411 972	Homo sapiens (human)
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:0080087	nonsyndromic congenital nail disorder 9	ALG3 DPM1 EXT2 GPC3 PLOD3	10195 2132 2719 8813 8985	Homo sapiens (human)

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