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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 **10451 - 10475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Aliases: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:5223	infertility	ATM BRCA2 CDC23 CDKN1B CSF1R ESR1 METTL3	1027 1436 2099 472 56339 675 8697	Homo sapiens (human)	Alliance of Genome Resources
DOID:9471	meningitis	HCN1 HCN2 IGF2 PLAU PLAUR	3481 348980 5328 5329 610	Homo sapiens (human)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	COL4A1 COL4A2 COL6A3 IRS1 TNRC6B TSC2	1282 1284 1293 23112 3667 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:8670	eating disorder	HDAC4	9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6PD GPI HK1 PKLR	2539 2821 3098 5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	AGT CALCA CCR2 GCG HLA-DRA IL6 KCNJ11 PPARGC1A PTPRN2 RELB SIRT3 SLC4A2 SLC4A8 UCP3	10891 183 23410 2641 3122 3569 3767 5799 5971 6522 729230 7352 796 9498	Homo sapiens (human)	Alliance of Genome Resources
DOID:8536	herpes zoster Aliases: Shingles herpes zona	F2 IL10 IL2 IL4 TNF	2147 3558 3565 3586 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080285	developmental and epileptic encephalopathy 58 Aliases: DEE58 early infantile epileptic encephalopathy 58	NTRK2	4915	Homo sapiens (human)	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	PLAT	5327	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	FH	2271	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	APC2 CAMSAP1 FOXP1 HCN1	10297 157922 27086 348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	P2RY12	64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	SGCG	6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	CHD4 DTNA PRDM16 SLC39A8 YWHAE	1108 1837 63976 64116 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	ABCC2 ABCC3 RDX SLCO1A2	1244 5962 6579 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10B KCNH2 KCNH6	144245 3757 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources

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