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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 **5776 - 5800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0081183	autosomal recessive intellectual developmental disorder 7	Ostgamma	34137	Drosophila melanogaster (fruit fly)
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	Ostgamma	34137	Drosophila melanogaster (fruit fly)
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	Otog	18419	Mus musculus (house mouse)
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)
DOID:0060763	X-linked juvenile retinoschisis 1 Aliases: X-linked juvenile retinoschisis X-linked retinoschisis XLRS	PAFAH1B1 SLC5A1	5048 6523	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:0060432	chromosome 17p13.3 duplication syndrome Aliases: 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3	PAFAH1B1	5048	Homo sapiens (human)
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	Homo sapiens (human)
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)
DOID:6901	familiar ovarian carcinoma	PARP1 PIK3CA	142 5290	Homo sapiens (human)
DOID:7134	esophagus small cell carcinoma Aliases: Oat cell carcinoma of esophagus Oat cell carcinoma of oesophagus oesophagus small cell carcinoma	PARP1 PTEN	142 5728	Homo sapiens (human)
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	Homo sapiens (human)
DOID:3857	large cell medulloblastoma Aliases: Anaplastic medulloblastoma	PARP1	142	Homo sapiens (human)
DOID:7061	obsolete precursor B lymphoblastic lymphoma/leukemia	PARP1	142	Homo sapiens (human)
DOID:0110969	brachydactyly type B1 Aliases: BDB1	PARP1	142	Homo sapiens (human)
DOID:0060181	ischemic colitis	PC PTGS2 SMUG1	23583 5091 5743	Homo sapiens (human)
DOID:859	holocarboxylase synthetase deficiency Aliases: Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset	PC	5091	Homo sapiens (human)
DOID:3307	teratoma	PCM1 PGM1 PGM2	853732 855131 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: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:0080178	mucositis	PCNA PTGS2	5111 5743	Homo sapiens (human)
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)
DOID:11843	coronary artery anomaly Aliases: Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital	PCYT1A POFUT1	23509 5130	Homo sapiens (human)
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)

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