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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 **6076 - 6100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4346	variegate porphyria Aliases: Protocoproporphyria Protoporphyrinogen oxidase deficiency	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0110517	autosomal recessive nonsyndromic deafness 66 Aliases: DFNB66 autosomal recessive deafness 66	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:12528	lesion of sciatic nerve	CAT CYP11A1 CYP17A1 GFRA1 HSD3B1 ICAM1 MAG RGMA	1583 1586 2674 3283 3383 4099 56963 847	Homo sapiens (human)	DisGeNET
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	IL1RL1	9173	Homo sapiens (human)	DisGeNET
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2660	cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)	DisGeNET
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6576	childhood optic nerve glioma Aliases: glioma of the pediatric visual pathway	APRT PIK3CA PIK3CB PIK3CD PIK3CG	353 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:11111	hydronephrosis	ACE B3GLCT B4GAT1 CHST14 COG1 COG7 CPT2 CYP1A1 EBP G6PC3 GPC3 HPSE2 IDH2 MASP1 NAGLU NSDHL OGA PGAP2 PGAP3 PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PLD1 PTGES PTGS2 TBXAS1 VNN1	10682 10724 11041 113189 1376 145173 1543 1636 23556 2719 27315 284098 3418 4669 50814 5337 55650 5648 5743 60495 6916 84720 84992 8876 9091 91949 92579 93210 9382 9487 9536	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	ATRN	8455	Homo sapiens (human)	DisGeNET
DOID:0050012	chikungunya Aliases: Chikungunya fever	AKR1C4 BST2 CD209 CD74 FASN GOLPH3 KLRD1 MPG NCAM1 NDST1 PIK3CA PIK3CB PIK3CD PIK3CG SIGLEC9 SMUG1 SPHK2	1109 2194 23583 27180 30835 3340 3824 4350 4684 5290 5291 5293 5294 56848 64083 684 972	Homo sapiens (human)	DisGeNET
DOID:0090090	hypogonadotropic hypogonadism 19 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110113	atrial heart septal defect 8 Aliases: ASD8 atrial septal defect 8	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H Aliases: LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	ALG1 CD74 CYP17A1 CYP1A1 DCN DHCR24 GOLPH3 PIK3CA PTEN STS	1543 1586 1634 1718 412 5290 56052 5728 64083 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)	DisGeNET
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	ACE AKR1A1 CAT PLA2G7 SORD	10327 1636 6652 7941 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	CHIT1 COMT CYP2B6	1118 1312 1555	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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