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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 **2501 - 2525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	ADH1B AKR1A1 CYP2C19 CYP2C8 CYP2C9 GBA1 HPGDS PAFAH1B1 RTN4R SMUG1 STS	10327 125 1557 1558 1559 23583 2629 27306 412 5048 65078	Homo sapiens (human)	DisGeNET
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	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:7489	Osgood-Schlatter's disease Aliases: Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle	COL9A2	1298	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2661	myoepithelioma Aliases: Myoepithelial adenoma Myoepithelial neoplasm benign myoepithelioma	OGT SDC1	6382 8473	Homo sapiens (human)	DisGeNET
DOID:9138	stomach carcinoma in situ Aliases: carcinoma in situ of stomach gastric carcinoma in situ	MUTYH PIK3CA PIP5KL1	138429 4595 5290	Homo sapiens (human)	DisGeNET
DOID:11354	stone in bladder diverticulum Aliases: calculus in diverticulum of bladder	CEACAM5 CEACAM7 DPEP1	1048 1087 1800	Homo sapiens (human)	DisGeNET
DOID:0110720	neuronal ceroid lipofuscinosis 4 Aliases: CLN4B disease autosomal dominant neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis 4 Parry type neuronal ceroid lipofuscinosis 4B	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)	DisGeNET
DOID:0060302	type II complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)	DisGeNET
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	ACE ACSS2 AKR1C3 ATP6AP2 CAT CHST3 CYP17A1 CYP19A1 CYP1A2 CYP2E1 GNPTAB GNPTG HPGDS HSD3B1 ICAM1 IDH1 IDH2 IDUA MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PTEN PTGES3 SLC2A10 SLC35A1 STS TMTC3	10159 10559 10728 1544 1571 1586 1588 160418 1636 23659 27306 3283 3383 3417 3418 3425 412 4153 5290 5291 5293 5294 5321 55902 5728 79158 81031 84572 847 8644 9469	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10783	methemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4588	secretory 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 DisGeNET
DOID:319	spinal cord disease	ARSB B3GALT6 CD38 CNTN2 CNTN3 ERLEC1 EXT1 GNPTAB HMGCS1 HPRT1 IDUA IL18RAP MINPP1 PTGS2 SLC26A2 SMUG1 TMTC1	126792 1836 2131 23583 27248 3157 3251 3425 411 5067 5743 6900 79158 83857 8807 952 9562	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	AKR1B1 ASAH1 CAT CD38 CD44 CEACAM5 CLEC9A COMT CTSA CYP1A1 CYP2B6 ENPP1 FASN FCGR3B FUT3 GAD1 GAD2 GLB1 GUSB HPRT1 HS3ST1 HS3ST6 ICAM1 LGALS1 LGALS4 LGALS9 MBL2 MRC1 MTMR3 MTMR4 PARG PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS2 SFTPC SMPD1 SOAT1 STT3A SUCLA2 TNKS TREH UNG XYLT2	1048 11181 1312 1543 1555 2194 2215 231 2525 2571 2572 2720 283420 2990 3251 3383 3703 3956 3960 3965 4153 427 4360 4860 5167 5290 5291 5293 5294 5476 5743 64132 6440 64711 6609 6646 7374 847 8505 8658 8803 8897 9110 952 960 9957	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9254	mast-cell leukemia	ACLY CD33 ENPP3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMPD1	47 5169 5290 5291 5293 5294 5743 6609 945	Homo sapiens (human)	DisGeNET
DOID:9938	dacryocystitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110452	dilated cardiomyopathy 1T Aliases: CMD1T	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	AACS ABO ACACA ACE ACER3 ACHE ACLY ACOT7 ACSL5 ACSL6 ADH4 AGRN AKR1B1 AKR1C3 AKR1C4 ALG3 ALOX12 ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSD ASAH1 ATRNL1 B3GALT5 BAAT BST1 CACNA2D1 CACNA2D3 CALR CAT CBR1 CBR3 CD14 CD177 CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CEMIP CHI3L1 CHIT1 CHST9 CLC CLEC12A CLEC7A COLEC10 CPT1A CRYL1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A4 CYP7A1 DAG1 DHDDS DLAT EBP EFNA2 EFNA5 ELOVL6 ENO2 ENPP3 EXTL3 FCER2 FCGR3B FH FOLR2 FUT1 FUT4 G6PC3 G6PD GALNT14 GALNT2 GBE1 GDPD5 GGT1 GLB1L2 GLUL GP2 GPAT3 GPI GPX1 GPX3 GUSB HK2 HMMR HPGDS HPRT1 HPSE2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IL1RAP IL1RL1 INPP4B INPP5D ITPK1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS9 LYZ MACROD2 MBD4 MCAT ME3 MICA MOGS MPI MTMR3 NAMPT NCAM1 NT5E NTM OARD1 OGG1 PAFAH1B1 PARG PARP1 PARP9 PCYT1A PDIA3 PFKFB3 PGP PGS1 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PKD1 PKM PLA2G4A PLA2G5 PLA2R1 PLAUR PLB1 PLCB1 PLCB4 PLCE1 PLCG1 PLCG2 PMM2 PNLIP POGLUT1 POMGNT2 PRKAA2 PTEN PTGES3 PTGS1 PTGS2 QPRT RPN1 RTN4R RTN4RL1 SDC4 SELL SHMT1 SIGLEC5 SIGLEC7 SIRT2 SIRT6 SLC27A5 SLC2A3 SLC2A5 SLC35F3 SLC35G1 SMC3 SMPD3 SMUG1 SOAT1 SPACA3 SPHK1 SRGN ST3GAL4 ST8SIA3 STS TIGAR TMEM260 TNFRSF10C TNKS TP53 UGCG UGT1A1 ULBP2 UMOD UNG VCAM1 VCAN XYLT1	100507436 1012 10135 10195 10317 1056 10584 10682 10728 10873 10998 1109 1116 1118 11332 1178 124912 127 1374 140733 142 1462 146760 148641 151056 1543 1544 1545 1555 1571 1576 1581 159371 160364 1604 1605 1636 1737 1943 1946 2026 2137 2208 221443 2215 2271 22914 22925 22933 231 23236 23305 23475 2350 23556 23583 23600 239 240 248 250 2523 2526 2539 2590 26033 2632 2678 27036 27306 27349 2752 28 2813 2821 283871 2876 2878 2923 2990 307 308 3099 31 3161 3251 3383 3417 3418 3425 353 3554 3556 3635 3705 375790 3824 3956 3958 3965 4069 412 414 427 43 4351 4684 47 4907 4968 5048 50863 51046 51084 51196 5130 51548 5169 51703 5209 5277 5290 5291 5293 5294 5305 5310 5315 5321 5322 5329 5332 5335 5336 5373 5406 54658 54916 55331 55512 5552 5563 55799 56983 570 57103 57126 57214 5728 5742 5743 60495 6184 6385 6402 64131 64581 6470 6484 65078 6515 6518 65985 6646 683 7157 7357 7369 7374 7412 781 7841 79071 79623 79947 80328 811 81544 83539 83666 8396 847 84803 84892 8505 8644 8658 873 874 8778 8794 8809 8821 8877 8897 8930 89944 9126 9173 92579 929 933 945 9489 952 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5828	endometrioid ovary carcinoma Aliases: Ovarian endometrioid carcinoma endometrioid carcinoma ovary	MRC1 PIK3CA PTEN PTGS2	4360 5290 5728 5743	Homo sapiens (human)	DisGeNET

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