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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 **4451 - 4475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	MOGS	7841	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)	DisGeNET
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	ACADVL CFC1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP2C19 CYP4F3 FH GLO1 GML HADHA HSD11B2 HSD17B1 HSD17B3 HSD17B6 HSD3B1 HSD3B2 IDS MDH2 OTOA SDHB	146183 1555 1557 1583 1584 1585 1586 1588 1589 2271 2739 2765 3030 3283 3284 3291 3292 3293 3423 37 4051 4191 55997 6390 8630 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ABO ACHE B3GALT6 CD14 CNTN5 CNTN6 COMT CSGALNACT2 CYP2B6 ENO2 FH GFRA1 GFRA2 GFRA4 ICAM1 IL1RL2 INPP5E ITPKC L1CAM PGAP2 PGAP3 PGP PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CG PLCB1 PTGES SIGLEC8 SLC2A1	126792 1312 1555 2026 2271 23236 23556 2674 2675 27181 27255 27315 28 283871 284098 3383 3897 43 5277 5294 53942 55454 55650 56623 64096 6513 80271 84720 84992 8808 929 93210 9487 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	Homo sapiens (human)	DisGeNET
DOID:5292	mediastinum leiomyosarcoma Aliases: leiomyosarcoma of mediastinum	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:11244	neonatal anemia Aliases: anaemia neonatal anemia neonatal neonatal anaemia	ABO GPI OCRL	28 2821 4952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)	DisGeNET
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:2839	erythropoietin polycythemia Aliases: Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050873	follicular lymphoma	AKR1C4 ALOX5 ATP6AP1 CD38 CD44 CD55 CHIT1 FBP1 FCER2 FH GAPDH GBA1 GPX1 HPGDS HSD11B2 KDSR LPL MASP2 MBL2 MCAT NAMPT NCAM1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDC1 SLC35B2 SMUG1	10135 10747 1109 1118 1604 2203 2208 2271 23583 240 2531 2597 2629 27306 27349 2876 3291 347734 4023 4153 4684 4968 5290 5291 5293 5294 537 5728 6382 952 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3385	bacterial vaginosis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	SDC1	6382	Homo sapiens (human)	DisGeNET
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	AGK CPT2 DGAT1 LPIN2 PEMT PNPLA2 PNPLA3	10400 1376 55750 57104 80339 8694 9663	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ACAT1 CALR CD177 HMGCL NAAA PMM2	27163 3155 38 5373 57126 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11175	enophthalmos	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)	DisGeNET
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum 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:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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