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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 **5676 - 5700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Nampt Pgf Tlr4 Ucp2	29260 297508 54315 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Nampt Pgf Tlr4 Ucp2	18654 21898 22228 59027	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	Ndst1 Ndst2 Ndst3 Ndst4	15531 17423 64580 83398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	Ndst1 Ndst2 Ndst3 Ndst4	114002 295430 29633 362035	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Ndst1	29633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1	29633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	29633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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