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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 **6276 - 6300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	PCSK1	5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	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	PCM1	856652	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3307	teratoma	PCM1 PGM1 PGM2	853732 855131 856652	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	PCLO	27445	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:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	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: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:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PC	5091	Homo sapiens (human)	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:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	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:0050865	tongue squamous cell carcinoma	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:0050933	ovarian serous carcinoma	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: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: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:4001	ovarian carcinoma	PBS2 RHO1 STE20	853313 856294 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5679	retinal disease	PBS2 PSD1	853313 855552	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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