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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 **4426 - 4450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	ABO ACACA ACAN ACAT1 ACE ACHE ACLY ACOX2 ACSM3 ACSS2 ADH1B ADH1C ADIPOQ AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG9 ALOX12 ALOX5 ALPP AMACR ANXA5 ANXA7 APRT ARSA ARSD ARSI ATP6AP2 ATRNL1 C1GALT1 CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CERS2 CFC1 CHI3L1 CHST3 COG2 COL9A2 COMT CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A5 CYP4F2 CYP4F3 CYP7A1 DBT DCN DEGS1 DGKE DHCR7 DPEP1 DSE EFNA5 ENO1 ENPP1 EPHX2 FADS1 FADS2 FCGR3B FDFT1 FREM1 FUT2 G6PD GAD1 GAL3ST1 GALNS GCK GGT1 GHRL GLA GLUL GML GNPDA2 GPC6 GPIHBP1 GPX1 GPX3 GYS1 H6PD HADHB HPGDS HPSE HSD11B1 HSD11B2 HSD17B12 ICAM1 IDH2 IGF2R IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 IMPA1 INPP5K KHK KL LCAT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S MACROD1 MASP1 MBL2 MBOAT7 MGAM MGAT1 MGLL MICA MPI MRC1 NAAA NAGLU NAMPT NT5E OGA OGG1 OGT OLR1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCE1 PLPP3 PMM2 PNPLA2 PNPLA3 PPARGC1A PRKAA2 PTGDS PTGIS PTGS1 PTGS2 RENBP RPE SCD SELE SELP SFTPA1 SFTPA2 SFTPD SHMT1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A4 SLC33A1 SLC35A1 SLC35E3 SLC5A1 SMUG1 SOAT1 SPHK2 SULT1E1 TBXAS1 TECR TM7SF2 TYMP UGT1A1 UGT1A6 UGT2B7 UMOD VCAM1 VCAN VNN1	100507436 10082 1012 10135 10159 10327 1048 10559 10724 10855 10891 11141 1116 11343 125 126 1298 1312 132789 142 1462 151056 1543 1544 1545 1555 1557 1559 1571 1573 1577 1581 158326 1584 1585 1588 1593 1629 1634 1636 1717 176 1800 1890 1946 2023 2053 217 2215 2222 22796 22933 231 23175 23236 23583 23600 23659 239 240 250 2524 2539 2571 2588 26033 2645 26503 2678 27163 2717 27306 2752 2765 28 2876 2878 28992 29940 29956 2997 3032 308 31 310 3290 3291 3383 338328 340075 3418 3482 353 3554 3612 3795 38 3931 3956 3957 3958 3988 3990 3992 4023 4048 4051 4056 410 414 4153 4245 43 4351 4360 4669 47 4907 4968 4973 501 5091 51144 51196 51548 5167 51738 51763 5290 5291 5293 5294 5319 5320 5321 5329 5373 54578 54658 55508 5563 55902 55997 5648 56848 56913 57104 5730 5740 5742 5743 5973 6120 6296 6319 6401 6403 6441 6470 6476 6514 6517 6523 653509 6646 6783 6916 7108 729238 7364 7369 7412 79143 7941 79796 80339 811 8309 8398 8399 847 8473 8526 8529 8560 8613 8807 8809 8876 8972 9173 9197 929 9365 9370 9388 9415 9469 9514 952 9524 9563 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:285	hairy cell leukemia	ACSBG1 ANXA5 B3GAT1 CD1D CD22 CD44 CYP19A1 ENPP1 GPX1 HEXB NCAM1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1588 23205 23583 27087 2876 3074 308 4684 4706 5167 5290 5291 5293 5294 912 933 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	Homo sapiens (human)	DisGeNET
DOID:8478	actinomycosis Aliases: Actinomycotic madura foot Actinomycotic mycetema Actinomycotic mycetoma of foot Madura foot due to Actinomadura actinomycotic infection	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)	DisGeNET
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	ACO1 ALOX12 CD44 DGAT1 FDPS FUT2 FUT3 GPAT3 HSPG2 ICAM1 IL18R1 MICA TPI1	100507436 2224 239 2524 2525 3339 3383 48 7167 84803 8694 8809 960	Homo sapiens (human)	DisGeNET
DOID:11603	infant gynecomastia Aliases: Neonatal gynaecomastia breast engorgement in newborn	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111008	X-linked cone-rod dystrophy 1 Aliases: COD1 CORDX1 X-linked cone dystrophy 1	CD48	962	Homo sapiens (human)	DisGeNET
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	LCT	3938	Homo sapiens (human)	DisGeNET
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	ARSA CD33 CNTN2 FCER2 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 PTEN SOAT1	2208 3418 410 5290 5291 5293 5294 56983 5728 6646 6900 945	Homo sapiens (human)	DisGeNET
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	ACAN COMT HPGDS MMP25	1312 176 27306 64386	Homo sapiens (human)	DisGeNET
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	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 DisGeNET Alliance of Genome Resources
DOID:0060831	Griscelli syndrome Aliases: Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome	FCGR3B IDS	2215 3423	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	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
DOID:0110738	neurodegeneration with brain iron accumulation 4 Aliases: MPAN Mitochondrial Protein-Associated Neurodegeneration NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	ALDH1A3 ALDH7A1 ALG2 ALG3 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CRPPA CYP1B1 DAG1 DHCR7 FKRP FKTN GAS1 GMPPA GMPPB INPP5E LARGE1 PAFAH1B1 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRPS1 RXYLT1 SRD5A3	10195 10329 10585 10908 11041 11285 145173 148789 1545 1605 1717 220 2218 2619 29925 29926 29954 501 5048 523 55624 5631 56623 729920 79147 79644 84197 84892 85365 9215 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	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
DOID:3557	superior mesenteric artery syndrome Aliases: Wilkie's syndrome	ARSA CAT PCYT1A	410 5130 847	Homo sapiens (human)	DisGeNET
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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