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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 **2151 - 2175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0060181	ischemic colitis	PC PTGS2 SMUG1	23583 5091 5743	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:3857	large cell medulloblastoma Aliases: Anaplastic medulloblastoma	PARP1	142	Homo sapiens (human)
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	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:6901	familiar ovarian carcinoma	PARP1 PIK3CA	142 5290	Homo sapiens (human)
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	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:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)
DOID:0060763	X-linked juvenile retinoschisis 1 Aliases: X-linked juvenile retinoschisis X-linked retinoschisis XLRS	PAFAH1B1 SLC5A1	5048 6523	Homo sapiens (human)
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	Otog	18419	Mus musculus (house mouse)
DOID:0081183	autosomal recessive intellectual developmental disorder 7	Ostgamma	34137	Drosophila melanogaster (fruit fly)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	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:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Ostgamma Tl	34137 43222	Drosophila melanogaster (fruit fly)
DOID:104	bacterial infectious disease	Ostgamma Sdc Ugalt	31255 34137 37447	Drosophila melanogaster (fruit fly)
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	Ost48	31849	Drosophila melanogaster (fruit fly)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	26295	Rattus norvegicus (Norway rat)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	108155	Mus musculus (house mouse)
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:9669	senile cataract	Ogg1	81528	Rattus norvegicus (Norway rat)

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