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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 **5151 - 5175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1 MAN2C1	4123 4125	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	ALPP ATRNL1 CALR CLEC1B CYP2J2 FUT1 G6PD GOLPH3 HPRT1 ICAM5 IDH2 IL18R1 LMAN1 MCFD2 PIGA PIK3CD PKLR POGLUT1 SMUG1 SOAT1 UGT1A1	1573 23583 250 2523 2539 26033 3251 3418 3998 51266 5277 5293 5313 54658 56983 64083 6646 7087 811 8809 90411	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:720	normocytic anemia Aliases: ANEMIA NORMOCYTIC	ACHE ALDOA BPGM HK1 TPI1	226 3098 43 669 7167	Homo sapiens (human)	DisGeNET
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	ABO ACACA ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CPT1A CPT2 CYP11B2 CYP19A1 CYP1A2 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FASN FKRP FKTN FUT3 GBE1 GPX1 GPX3 HPRT1 HSD17B2 IDH1 IL18R1 IL1RL1 KL LGALS3 LY75 MBL2 MDH1 MGAM MGAT1 MMUT MPI MRC1 NAMPT NCAM1 PCCA PCCB PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 PRG2 PRKAA2 PTEN PTGS2 RENBP SCD SDC1 SDC4 SDHA SDHB SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 UGT8 VTCN1	10135 10159 1116 1374 1376 151056 1544 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 28 2876 2878 31 3251 3294 3417 347734 3958 4065 4153 4190 4245 4351 4360 4594 4684 501 5095 5096 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5973 622 6319 6382 6385 6389 6390 6484 6517 6523 6783 7108 7368 79147 7941 79679 847 8809 8972 9173 9365	Homo sapiens (human)	DisGeNET
DOID:5557	testicular germ cell cancer Aliases: germ cell tumor of testis	ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP2B6 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 IL18R1 LDHC LGALS3 MCFD2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 STS TKTL1	1047 1555 1586 1588 1636 220 23583 240 242 250 2650 2678 2719 27306 3161 3295 3948 3958 412 4360 501 5226 5290 5291 5293 5294 55500 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1412	bacteriuria	CYP1A1	1543	Homo sapiens (human)	DisGeNET
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS HGSNAT NAGLU SGSH	138050 2799 4669 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5290 5291 5293 5294 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ACE ANXA5 ARSF B3GLCT CALR CD93 CHI3L1 CYP21A2 ELOVL4 FUT6 GPX3 HPGDS LIPC MASP2 PLA2G12A PNPLA2 TLR2	10747 1116 145173 1589 1636 22918 2528 27306 2878 308 3990 416 57104 6785 7097 811 81579	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	ADH1B ALDH2 IGF2	125 217 3481	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2300	spondylolysis	AGA SLC26A2	175 1836	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2751	glycogen storage disease VIII Aliases: Glycogen storage disease 8 glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency	G6PC1 GGT1	2538 2678	Homo sapiens (human)	DisGeNET
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050689	brachydactyly-syndactyly syndrome	MBOAT1	154141	Homo sapiens (human)	DisGeNET
DOID:100	intestinal infectious disease Aliases: bacterial enteritis	APRT FDPS ICAM1 IL18R1 LCT LYZ PLA2G4A ST8SIA2	2224 3383 353 3938 4069 5321 8128 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GLUL GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KDSR KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKFC TKT TM7SF2 TMEM199 TNF UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2531 2538 2592 26007 26033 2632 26503 2678 27036 2719 27306 2739 2752 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7124 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)	DisGeNET
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)	DisGeNET
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACE ACSL4 ALG12 ALG8 ARSD ART3 B3GLCT CD14 CD44 CEACAM6 CHST15 CLEC7A COMT CRYBG1 CYP19A1 CYP1B1 CYP2C19 CYP2C9 CYP4F2 CYP4F3 DHCR24 DPM1 ENO1 FASN G6PC3 GLB1 GPC3 IDH1 INPP5E LGALS1 LGALS3 LGALS9 MASP1 MBL2 MSLN NAMPT NTNG1 PARP1 PDHX PIGN PIGQ PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTEN PTGES PTGIS PTGS2 RECK SMPD2 STS TALDO1 TFAP2B TKT UMPS	10135 10232 1312 142 145173 151056 1545 1557 1559 1588 1636 1718 202 2023 2182 2194 22854 23556 2719 2720 3417 3956 3958 3965 4051 412 414 4153 419 4680 51363 51604 5290 5291 5293 5294 5648 56623 5728 5740 5743 64581 6610 6888 7021 7086 7372 79053 79087 8050 8434 8529 8813 9091 92579 929 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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