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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 **9651 - 9675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	PANK2 PANK3 SNCA SNCB SNCG	6620 6622 6623 79646 80025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	PARK7 PINK1 SYNJ1 SYNJ2	11315 65018 8867 8871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060370	Parkinson's disease 7 Aliases: autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7	PARK7	11315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:1100	ovarian disease	PAT1	850440	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	PAX8	7849	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	PBS2 PSD1	853313 855552	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4001	ovarian carcinoma	PBS2 RHO1 STE20	853313 856294 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050933	ovarian serous carcinoma	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3905	lung carcinoma Aliases: cancer of lung	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PC	5091	Homo sapiens (human)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	PCCA PCCB	5095 5096	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	PCDH19	57526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	PCLO	27445	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	PCM1 PGM1 PGM2	853732 855131 856652	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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