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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 **8226 - 8250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111481	combined oxidative phosphorylation deficiency 11 Aliases: COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect	RMND1	55005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080163	otulipenia Aliases: autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome	OTULIN	90268	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	WNT4	54361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111504	Li-Fraumeni syndrome 2 Aliases: LFS2	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:11516	hypertensive heart disease	NPPB	4879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	SERPINF2	5345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	FAT1 LARGE1	2195 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	C3 CCL2 CSF2 HLA-DQB1 HLA-DQB2 MUC1 NOS2	1437 3119 3120 4582 4843 6347 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111537	paroxysmal extreme pain disorder Aliases: PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060812	syndromic X-linked intellectual disability Siderius type Aliases: MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type	PHF8	23133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081163	dilated cardiomyopathy 2G	LMOD2	442721	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 FLT4 PIEZO1 THSD1 TIE1 VEGFC	10203 2324 285 55901 7075 7424 9620 9780	Homo sapiens (human)	Alliance of Genome Resources

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