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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 **4301 - 4325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060783	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Aliases: EEC syndrome 3 EEC3	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0110489	autosomal recessive nonsyndromic deafness 30 Aliases: DFNB30 autosomal recessive deafness 30	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13206	nodular prostate	ACE ACSS2 AKR1B10 ALDH7A1 ALOX12 ALOX15 ALOX15B ALOX5 AMACR ANXA7 CANX CAT CD177 CD44 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 CYP3A4 CYP3A5 EFNA2 ELOVL6 ENO2 ENPP1 ENPP2 GALNT3 GGT1 GLCE GOLPH3 GPC1 HMMR HPGDS HPSE HSD17B1 HSD17B2 HSD17B3 HSD17B7 ISYNA1 KLB LDHA LGALS8 LPL LYZ MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLD1 PRG2 PTEN PTGS2 RECK RENBP SLC33A1 SRD5A1 SRD5A2 STS SULF1 SULT1E1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 UGT2B17 VCAN	10855 1312 1462 152831 1543 1545 1555 1576 1577 1583 1586 1588 1636 1943 2026 23213 23600 23659 239 240 246 247 2591 26035 2678 27306 2817 310 3161 3292 3293 3294 3939 3964 4023 4069 412 4360 501 51477 51478 5167 5168 5290 5291 5293 5294 5337 54575 54576 54577 54578 54657 54658 5553 55902 57016 57126 5728 5743 5973 64083 6715 6716 6783 7366 7367 79071 821 8434 847 9197 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:6114	cerebral convexity meningioma Aliases: Cerebral Hemispheric Convexity 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2095	sweat gland cancer Aliases: malignant neoplasm of sweat gland malignant tumor of the Sweat gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111034	hemochromatosis type 2 Aliases: HFE2 JHH juvenile hemochromatosis	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)	DisGeNET
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	CMAS GFRA1 TNFRSF10C VCAM1	2674 55907 7412 8794	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110112	atrial heart septal defect 7 Aliases: ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	ACE ALG1 GPC3 HSPG2 PLCE1 SDC2 SGPL1 TREH	11181 1636 2719 3339 51196 56052 6383 8879	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)	DisGeNET
DOID:0110773	hereditary spastic paraplegia 2 Aliases: SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11875	denture stomatitis Aliases: Denture sore mouth	CAT FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP UGT1A1 UNG	100507436 142 2215 5290 5291 5293 5294 54658 5538 5660 7374 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADIPOQ CBR4 CD14 CFC1 CYP7A1 ENPP2 FCGR3B GGT1 GPC1 ICAM1 MBD4 NCAM1 PCK1 PTEN SELE	1581 2215 2678 2817 3383 4684 5105 5168 55997 5728 6401 84869 8930 929 9370	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	A4GALT A4GNT ACOT1 ANXA7 CAT CD44 CEACAM5 CEACAM6 CFC1 CYP1A1 CYP2E1 ENO1 FASN GAD1 GALNT18 GALNT2 GALNTL5 GPX1 HPGDS LGALS3 MAPK14 MGAT5 MSLN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCE1 PLCG1 PRKAA2 PTEN PTGS2 SDHA SMUG1 SULT1E1 TP53 VTCN1	10232 1048 1432 1543 1571 168391 2023 2194 23583 2571 2590 27306 2876 310 374378 3958 4249 4507 4680 51146 51196 5290 5291 5293 5294 5320 5335 53947 5563 55997 5728 5743 6389 641371 6783 7157 79679 847 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	ACAT2 ACSL6 AKR1C3 B4GALNT1 BCKDHB CD38 CDH13 CHI3L1 CLEC1B COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GAD1 GALT GPX3 HACD1 HJV HSD17B3 HSD17B4 HSD17B7 IGF2R KL LGALS1 LGALS3 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN SLC39A8 SMUG1 SRD5A2 STS SULT1E1 XPNPEP2	1012 1116 120227 1312 142 148738 1497 1555 1557 1581 1582 1588 23305 23583 2571 2583 2592 2878 3293 3295 3482 39 3956 3958 412 51266 51478 5226 5290 5291 5293 5294 5321 5373 5728 594 64116 6716 6783 7512 84649 8644 9200 92579 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	AGA ARSA ARSB ASAH1 CAT CEL CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LIPA LIPF LPL LSS MANBA MGAM NAGA NAGPA NCAM1 NT5E OGA PSAP PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 SOAT2 UGCG UGT1A1 UMOD VCAM1	1056 10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 3988 4023 4047 410 411 4126 427 4668 4684 4907 51172 54658 5476 5660 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 8435 84572 847 8513 8972 9415	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5375	hair follicle neoplasm Aliases: Hair Matrix neoplasm Hair matrix tumour	MUTYH SDC1	4595 6382	Homo sapiens (human)	DisGeNET
DOID:13507	trigonitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 847	Homo sapiens (human)	DisGeNET

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