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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 **7826 - 7850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	GDB1	856314	Saccharomyces cerevisiae S288C
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	GDB1	856314	Saccharomyces cerevisiae S288C
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	GUT1	856353	Saccharomyces cerevisiae S288C
DOID:0060363	glycerol kinase deficiency	GUT1	856353	Saccharomyces cerevisiae S288C
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	MNL1	856611	Saccharomyces cerevisiae S288C
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	PCM1	856652	Saccharomyces cerevisiae S288C
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	PCM1	856652	Saccharomyces cerevisiae S288C
DOID:0050833	orotic aciduria	URA3	856692	Saccharomyces cerevisiae S288C
DOID:2957	pulmonary tuberculosis	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	WBP1	856716	Saccharomyces cerevisiae S288C
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C
DOID:0050571	congenital disorder of glycosylation type II	COG3	856901	Saccharomyces cerevisiae S288C
DOID:0080909	castration-resistant prostate carcinoma	AKR1C3	8644	Homo sapiens (human)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	8674033	Drosophila melanogaster (fruit fly)
DOID:0060779	congenital malabsorptive diarrhea 4 Aliases: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis	DGAT1	8694	Homo sapiens (human)
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	DGAT1	8694	Homo sapiens (human)
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)
DOID:2889	retrocochlear disease	SUCLA2	8803	Homo sapiens (human)
DOID:9699	ophthalmia neonatorum Aliases: Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis	IL18R1	8809	Homo sapiens (human)

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