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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 **2426 - 2450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	288091	Rattus norvegicus (Norway rat)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Poglut1 Pomt2	288091 688673	Rattus norvegicus (Norway rat)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Pofut1 Poglut1	288091 311551	Rattus norvegicus (Norway rat)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	287983	Rattus norvegicus (Norway rat)
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	GPX3	2878	Homo sapiens (human)
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)
DOID:0110406	retinitis pigmentosa 30 Aliases: RP30	ELOVL4 GPX3 RPE	2878 6120 6785	Homo sapiens (human)
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	APEX1 GPX3 RBP4	2878 328 5950	Homo sapiens (human)
DOID:7941	Barrett's adenocarcinoma Aliases: Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa	GPX3 GPX7 PTGS2	2878 2882 5743	Homo sapiens (human)
DOID:0070004	myeloid neoplasm	GPX1	2876	Homo sapiens (human)
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)
DOID:7371	superficial urinary bladder cancer Aliases: Superficial urinary bladder carcinoma	CD44 GPX1 PTEN TM7SF2	2876 5728 7108 960	Homo sapiens (human)
DOID:13272	Klebsiella pneumonia Aliases: Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder)	CD44 GPX1 MBL2	2876 4153 960	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5 Aliases: GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5	PIGW	284098	Homo sapiens (human)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	GPI KL	2821 9365	Homo sapiens (human)
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060283	peeling skin syndrome Aliases: deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease	BST2 CHST8 GPI KLRB1	2821 3820 64377 684	Homo sapiens (human)
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	ANXA5 CALR CD1D GPI IDS LCT LGALS9 MBL2 PC SELP	2821 308 3423 3938 3965 4153 5091 6403 811 912	Homo sapiens (human)
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)

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