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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8401 - 8425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC35C1 SLC37A4 TMEM165	10159 2542 2590 55343 55858 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070294	primary autosomal recessive microcephaly 10 Aliases: MCPH10	ZNF335	63925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	GAB1	2549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	AGAP1 AGAP2 AGAP5 AGAP9 AUTS2 BRPF1 DOT1L DYRK1A EZH2 FRY FRYL KDM5B OPHN1 PDZD8 PRPF19 PSMC3 UNC79 ZMYND8	10129 10765 116986 116987 118987 1859 2146 23613 26053 27339 285527 4983 5702 57578 642517 729092 7862 84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	ACTB ANKRD26 CCL2 F7 FCGR2A FGA FLI1 FYB1 GALE GNE IL10 IL6 ITGA2 ITGA2B ITGB3 KDSR MASTL MBL2 MPL MYH9 PTPRJ SRC TBXA2R THPO TNF	10020 2155 2212 2243 22852 2313 2531 2533 2582 3569 3586 3673 3674 3690 4153 4352 4627 5795 60 6347 6714 6915 7066 7124 84930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080463	developmental and epileptic encephalopathy 33 Aliases: DEE33 early infantile epileptic encephalopathy 33	EEF1A1 EEF1A2	1915 1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070035	autosomal dominant intellectual developmental disorder 5 Aliases: MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5	SYNGAP1	8831	Homo sapiens (human)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	AKT1 ALOX12 AMACR APEX1 AREG BAX BRCA1 CA9 CASP9 CD44 CD82 CD9 CDC25A CDC25B CDH13 CDH1 CDKN1B CHEK2 COL6A3 COMT CTNNA1 CTNNB1 CTSB CXCR2 CYP1A1 CYP1B1 CYP2C9 DNMT1 E2F1 EEF1E1 EGFR ENO2 ERBB2 ERBB3 ERBB4 EZH2 F2 FAS FASLG FGFR2 FGFR3 FN1 HK1 HRAS HSPA1A ICAM1 IFNG IGFBP3 IL1RN IL2 JUP KDM5B KDR KIT KRAS KRT5 MAP2K4 MDM2 MGMT MKI67 MLH1 MMP13 MMP1 MMP2 MMP9 MRE11 MSH2 MSH6 MTR MUC1 MUC5B MYC NCSTN NME1 NME2 NOS3 PHB1 PLAU PLK1 PPARG PRKCA PTEN PTGS2 RB1 RELA RHOA RUNX3 SERPINE1 SFN SLC11A1 SMAD4 SOD2 SPARC SPP1 TERT TFF1 TGFBR1 THBS1 TIMP3 TLR2 TMEFF2 TNFRSF10A TOP2A TP53 TYMP TYMS VEGFA VEGFC VEGFD WIF1 WNT7B XRCC1	1012 1027 10765 11197 11200 1293 1312 1495 1499 1508 1543 1545 1559 1786 1869 1890 1956 2026 2064 2065 2066 207 2146 2147 2261 2263 2277 2335 23385 23600 23671 239 2810 2956 3098 3265 328 3303 3383 3458 3486 355 3557 3558 356 3579 3728 3732 374 3791 3815 3845 3852 387 4089 4193 4255 4288 4292 4312 4313 4318 4322 4361 4436 4548 4582 4609 4830 4831 4846 5054 5245 5328 5347 5468 5578 5728 5743 581 5925 5970 6416 6556 6648 6678 6696 672 7015 7031 7046 7057 7078 7097 7153 7157 727897 7298 7422 7424 7477 7515 768 842 864 8797 928 9521 960 993 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:4239	alveolar soft part sarcoma	ASPSCR1	79058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	MET	4233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080388	nephrotic syndrome type 7 Aliases: Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis	DGKE	8526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	MMP13	4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081394	Caroli syndrome	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	ANO5 FKTN	203859 2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources

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