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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 **6776 - 6800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	298690	Rattus norvegicus (Norway rat)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	Akr1a1 Akt1 Bad Chi3l1 Comt Igf2 Igfbp1 Lep Myc Ogg1 Pgf Pik3ca Prkaa1 Ptges3 Tlr4 Tnf Tp53 Ugt1a1	170911 24185 24267 24483 24577 24835 24842 24861 25608 25685 29260 362809 64639 65248 78959 81528 89824 94203	Rattus norvegicus (Norway rat)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1	100488616	Xenopus tropicalis (tropical clawed frog)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	24644	Rattus norvegicus (Norway rat)
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	Akt1	11651	Mus musculus (house mouse)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	Atf4	11911	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)
DOID:3361	childhood osteosarcoma Aliases: pediatric osteosarcoma	ACLY AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD44 CEACAM6 CHI3L1 CNTN2 COL9A2 COLGALT1 CSPG4 CYP19A1 CYP27B1 CYP2B6 DCN DDOST DPEP1 EFNA1 FADS1 FASN FBP1 FCN2 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB3 PGAM1 PGAP2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC2 SDC4 SDHA SDHC SIRT6 SLC2A4 SMPD2 SMUG1 SOAT1 SPHK2 STS SULT1E1 TNKS2 TNKS TUSC3 ULBP2 VCAN VTCN1	100507436 10327 10457 10555 10728 11145 1116 11343 1298 135228 142 1462 1464 1555 1588 1594 1634 1645 1650 1800 1942 219 2194 2203 2220 226 22914 2350 23583 240 248 250 2525 2597 26033 2619 2674 27306 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5209 5223 5290 5291 5293 5294 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 57104 57124 5716 5728 5743 5973 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 79679 79709 7991 80328 80351 811 821 8434 847 8505 8658 874 8809 8821 9200 929 960	Homo sapiens (human)
DOID:2529	splenic disease Aliases: Dyssplenism Spleen disease	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	ABO ACHE ACSM3 ADH1A AKR1A1 ALDH1A3 ALOX5 ARSA ASAH1 B3GALNT1 BST2 CA4 CACNA2D2 CAT CD248 CD38 CD44 CD48 CD74 CHPT1 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 DAG1 DCN DHCR24 ENO2 ENPP1 EXTL3 FASN FDPS FUT4 G6PD GFPT1 GFRA1 GLB1 GLUL GNS GPNMB HK1 HK2 HMMR HPGDS HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RAPL1 L1CAM L2HGDH LDHA LGALS3 MGAT5B MMP25 MRC1 NCAM1 NDUFAB1 NT5E OPCML PARP1 PCYT1A PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR POMT1 PRG3 PSMD10 PTEN PTGDS PTGS2 RTN4R SELL SLC2A3 SLC37A4 SMUG1 SOAT1 SPTLC1 ST3GAL3 ST6GAL1 STS SULF1 SULF2 SULT1E1 TM7SF2 TNKS UGT8 VCAN	10327 10394 10457 10558 10585 10855 11141 124 142 1462 1464 146664 1543 1545 1559 1571 1586 1588 1605 1634 1718 2026 2137 2194 220 2224 23213 23583 240 2526 2539 2542 2673 2674 2720 27306 2752 2799 28 3098 3099 3161 3383 3417 3418 3425 3482 3897 3939 3958 410 412 427 43 4360 4684 4706 4907 4978 5130 5167 5230 5290 5291 5293 5294 5315 5329 55959 56994 57124 5716 5728 5730 5743 6296 6402 64386 6480 6487 65078 6515 6646 6783 684 7108 7368 762 79944 847 8658 8706 9254 952 960 962 972	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:660	adrenal cortex cancer Aliases: Adrenal cortical tumors malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex	ACACA ACADVL ACAT1 ACOT7 AKR1B10 AKR1B1 AKR1C3 ALOX15B CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F2 CYP4F3 DHCR24 ENO2 ENPP3 FH G6PD GAPDH GLB1 HSD11B2 HSD17B4 HSD3B2 IDH1 IDH2 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 PTEN SCP2 SDHB SDHC SDHD SIRT6 SMUG1 SOAT1 SPHK1 TKT TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1589 1718 2026 2271 231 23583 247 2539 2597 2720 31 3284 3291 3295 3417 3418 3482 37 38 4051 4191 4595 4669 51548 5169 5290 5331 57016 5728 6342 6390 6391 6392 6646 7086 7108 8529 8644 8877 933 9469	Homo sapiens (human)
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	MMUT	4594	Homo sapiens (human)
DOID:10915	Wernicke-Korsakoff syndrome Aliases: Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis	ACACA ADH1B AKR1A1 ALDH2 CAT COMT CYP19A1 DLST GAD1 GLUL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 TKT	10327 125 1312 1588 1743 217 2571 2752 31 5290 5291 5293 5294 7086 80339 847	Homo sapiens (human)
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	ACE ALDH7A1 ALOX12 ALPP APRT ATRNL1 DAG1 FKRP GAA GK LARGE1 RGN	1605 1636 239 250 2548 26033 2710 353 501 79147 9104 9215	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	dgat2	565316	Danio rerio (zebrafish)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy	32497	Drosophila melanogaster (fruit fly)
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	PIK3CA PTGES	5290 9536	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)
DOID:6204	follicular adenoma Aliases: Follicular adenoma of the Thyroid gland Thyroid follicular adenoma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)
DOID:0110717	Warburg micro syndrome 2 Aliases: Micro Syndrome 2 WARBM2	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)

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