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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 **1226 - 1250** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4353	ciliary body disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADIPOQ ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ASAH2 ATP6V1A ATRN BRAF CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DGAT1 DLD DPM3 ECHS1 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GOT1 GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD SPHK1 SPHK2 ST3GAL4 SUCLG1 SULT1E1 TNF TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2805 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 56624 56848 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 673 6783 7124 7167 79147 79158 7941 79966 81031 811 84197 8455 847 8694 873 874 8802 8877 8972 9173 91949 9197 9365 9370 9469 9896	Homo sapiens (human)
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:8200	tertiary syphilis Aliases: late syphilis	SMUG1	23583	Homo sapiens (human)
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MAN2B1 MMUT	4125 4594	Homo sapiens (human)
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S Aliases: LGMD2S muscular dystrophy, limb-girdle, type 2S	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:6214	ovarian papillary neoplasm Aliases: Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)
DOID:5364	pulmonary coin lesion Aliases: Coin lesion lung Coin lesion of lung	CEACAM5 PLA2G10 PLA2G2A PLB1 SMUG1	1048 151056 23583 5320 8399	Homo sapiens (human)
DOID:602	cancerophobia Aliases: Fear of getting cancer cancer phobia	TMTC3	160418	Homo sapiens (human)
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	ACE	1636	Homo sapiens (human)
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	ACAN ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 DDOST EXT1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1650 176 1890 2131 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:11843	coronary artery anomaly Aliases: Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital	PCYT1A POFUT1	23509 5130	Homo sapiens (human)
DOID:6841	flat ductal epithelial atypia	ADH1B ADH4 PTEN	125 127 5728	Homo sapiens (human)
DOID:10604	lactose intolerance Aliases: LM - Lactose malabsorption	FUT2 GLB1 LCT PGM3 SI	2524 2720 3938 5238 6476	Homo sapiens (human)
DOID:1795	malignant exocrine pancreas neoplasm Aliases: malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas	ABO PC	28 5091	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3 Aliases: CVPT3	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:1932	Angelman syndrome Aliases: happy puppet syndrome puppetlike syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:656	adrenal adenoma Aliases: adenoma of the Adrenal gland	ACACA ACADVL AKR1C3 ALOX15B CHGA CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F3 DHCR24 G6PD GAPDH HSD11B2 HSD3B2 SDHB SDHC SDHD SMUG1	1113 1555 1583 1584 1585 1586 1588 1589 1718 23583 247 2539 2597 31 3284 3291 37 4051 6390 6391 6392 8644	Homo sapiens (human)
DOID:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)

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