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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 **3626 - 3650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	GGT1	2678	Homo sapiens (human)
DOID:6867	mediastinal gray zone lymphoma	FCER2	2208	Homo sapiens (human)
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GAD1 GCDH	2571 2639	Homo sapiens (human)
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)
DOID:10481	diaphragm disease	CYP2C9 GAA TPI1	1559 2548 7167	Homo sapiens (human)
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:117	heart cancer Aliases: Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart	ABO ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS CYP1A2 DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD UGT1A1	10855 1113 1312 142 1431 152330 1544 1636 1743 2271 23583 2539 28 2990 31 3417 3418 353 3897 3958 4191 4360 48 51478 5290 5291 5293 5294 5311 54658 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKB PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5257 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ACE AKR1A1 ALDH2 ICAM1 KL PCYT1A SMUG1	10327 1636 217 23583 3383 5130 9365	Homo sapiens (human)
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)
DOID:3401	inappropriate ADH syndrome Aliases: SIADH syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion	ACE COMT	1312 1636	Homo sapiens (human)
DOID:0110801	hereditary spastic paraplegia 49 Aliases: SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49	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)
DOID:2300	spondylolysis	AGA SLC26A2	175 1836	Homo sapiens (human)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	ABAT ACAT1 ACHE ALG1 ALPL B3GALNT2 CAT CHAT CNTN2 CYP11A1 DAG1 ENO2 GAD1 GAD2 IDH2 IMPA1 LMAN2L MAN1B1 MBOAT7 ME1 NDST1 NGLY1 PGAP1 PIGC PIGM PLCB1 PNPLA6 PTEN PTGS2 SLC33A1 SMUG1 ST3GAL3 STT3A TECR TMTC3 TUSC3	10908 1103 11253 148789 1583 160418 1605 18 2026 23236 23583 249 2571 2572 3340 3418 3612 3703 38 4199 43 5279 55768 56052 5728 5743 6487 6900 79143 7991 80055 81562 847 9197 93183 9524	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACADM ACE ACHE ACO2 ACOX1 ACSBG1 ADPRS AGPAT3 AKR1A1 ALDH2 ALOX12 ALOX5 ALPP ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 CAT CCDC115 CD14 CD33 CD38 CHAT CHGA CHI3L1 CHIT1 CLEC10A CLEC16A CLN5 CNTN2 COLEC11 COMT CYP19A1 CYP27A1 CYP2B6 CYP2U1 CYP46A1 CYP7B1 DAG1 DEGS1 DEGS2 DHCR24 DLST ELOVL4 ENO2 EPM2A FCN2 FDPS FIG4 FOLR2 G6PD GAA GAD1 GALC GAPDH GBA1 GDPD5 GLB1 GLO1 GLUL GM2A GPNMB GPX3 GUSB HEXA HEXB HIBCH HK1 HK2 HPGDS HPSE ICAM1 IDH2 INPPL1 KL L2HGDH LGALS3 LIPC LPL MANEAL MGLL MRC1 MTM1 MTMR2 MUTYH MYORG NAGLU NAGPA NAMPT NDUFAB1 OARD1 OGA OGDH OGG1 OGT PARP10 PARP1 PDIA3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLB1 PLCG2 PNP PNPLA6 PNPLA7 PPT1 PRKAA2 PRKAG2 PRKAG3 PRNP PTEN PTGES3 PTGES PTGS2 QPRT RENBP RPE SARM1 SCP2 SDHA SFTPA1 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC33A1 SMUG1 SPHK2 SPTLC1 SPTLC3 STS SUCLA2 SYNJ1 TIGAR TKT TMED9 TPI1 UNG VCAN	10135 10159 10327 10457 10462 10558 10724 10728 10855 10858 10908 1103 1113 1116 1118 11343 113612 1203 123099 1312 142 1462 149175 151056 1555 1588 1593 1605 1636 1718 1743 2026 217 221443 2220 2224 22933 23098 23205 23274 23475 2350 23583 239 240 250 2539 2548 2571 2581 2597 26033 26275 2629 26503 27036 27087 2720 27306 2739 2752 2760 283871 2878 2923 2990 3073 3074 3098 3099 3383 34 3418 3636 375775 3958 3990 4023 410 412 427 43 4360 4534 4595 4669 4706 4860 4967 4968 50 51 51172 51422 51548 5290 5291 5293 5294 5311 5319 5320 5321 5322 5336 53632 54732 54936 55304 5538 5563 5621 56848 56894 57103 5728 5743 57462 5973 6120 6342 6389 6448 6476 653509 6785 6900 7086 7167 7374 78989 7957 79944 81544 8398 84317 847 8473 84875 8560 8803 8867 8879 8898 9197 929 9365 9420 945 952 9536 9896	Homo sapiens (human)
DOID:11201	parathyroid gland disease Aliases: disease of parathyroid glands	AMY1A AMY1B AMY1C APRT CAT CYP19A1 HPGDS KL L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847 9365	Homo sapiens (human)
DOID:0110733	neuronal ceroid lipofuscinosis 9 Aliases: CLN9	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)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GLUL GPX1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LEP LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPARGC1A PPT1 PRKAA1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UCP2 UGT1A1	10558 10715 10858 10891 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2752 2876 2882 2997 3417 3425 353 3952 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5562 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7351 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ACACA ACAT1 ALOX5 ARSA CAT CD38 ENPP2 G6PD GAA HPRT1 KLRK1 LTC4S NCAM1 PARP10 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTGS1 SOAT1 TBXAS1 TM7SF2 XYLT2	151056 22914 240 2539 2548 31 3251 38 4056 410 4684 5168 5290 5291 5293 5294 5321 5742 64132 6646 6916 7108 847 84875 952	Homo sapiens (human)
DOID:0060127	gamma heavy chain disease Aliases: Franklin's disease	ASAH2	56624	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)

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