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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 **4601 - 4625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	GBA1	2629	Homo sapiens (human)
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	GBA1	2629	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:0050575	D-2-hydroxyglutaric aciduria	GCDH IDH1 IDH2 L2HGDH	2639 3417 3418 79944	Homo sapiens (human)
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)
DOID:8943	lattice corneal dystrophy Aliases: familial amyloid neuropathy, Finnish type	GCDH	2639	Homo sapiens (human)
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	GCK INS KCNJ11 SLC2A2	2645 3630 3767 6514	Homo sapiens (human)
DOID:1428	endocrine pancreas disease	GCK PDHX	2645 8050	Homo sapiens (human)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)
DOID:0111087	Fanconi anemia complementation group C Aliases: FA3 FACC FANCC Fanconi pancytopenia type 3	GCK	2645	Homo sapiens (human)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	GCK	2645	Homo sapiens (human)
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	GCK	2645	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	GCY1 GLO1 TDH1 TDH2 TDH3 YPR1	851974 853106 853395 853465 854287 855009	Saccharomyces cerevisiae S288C
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	GCY1 IDP1 IDP2 IDP3 YPR1	850871 851493 851974 854287 855723	Saccharomyces cerevisiae S288C
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	GCY1 IDP2 IDP3 YBR053C YPR1	850871 851974 852342 854287 855723	Saccharomyces cerevisiae S288C
DOID:83	cataract	GCY1 OGG1 SOR1 SOR2 XYL2 YPR1 ZWF1	850759 851351 851974 853624 854287 854942 855480	Saccharomyces cerevisiae S288C
DOID:9743	diabetic neuropathy	GCY1 SOR1 SOR2 XYL2 YPR1	850759 851351 851974 853624 854287	Saccharomyces cerevisiae S288C
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C

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