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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 **3301 - 3325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110503	autosomal recessive nonsyndromic deafness 46 Aliases: DFNB46 autosomal recessive deafness 46	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:758	situs inversus Aliases: Complete transposition Laterality sequence situs inversus viscerum	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)	DisGeNET
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)	DisGeNET
DOID:7566	eccrine porocarcinoma Aliases: Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)	DisGeNET
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)	DisGeNET
DOID:9537	Lassa fever	DAG1 SLC17A5	1605 26503	Homo sapiens (human)	DisGeNET
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	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:12155	lymphocytic choriomeningitis Aliases: LCM Lymphocytic choriomeningitis virus encephalomyelitis Lymphocytic meningitis Lymphocytic meningoencephalitis	CD44 CHAT CLEC12A DAG1 SELL	1103 160364 1605 6402 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:672	spleen cancer Aliases: Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10440	mycotic corneal ulcer	CD209 CLEC4E CLEC7A ICAM1	26253 30835 3383 64581	Homo sapiens (human)	DisGeNET
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	ALDH1A3 GLB1 GPC5 LCT MRC1 MUTYH PLA2G2A PTGS2	220 2262 2720 3938 4360 4595 5320 5743	Homo sapiens (human)	DisGeNET
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	DCN ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1 TP53	1634 23583 3383 5290 5291 5293 5294 5335 5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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