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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 **13426 - 13450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ALDH18A1	5832	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:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080598	Kleefstra syndrome 2	KMT2C KMT2D	58508 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Aliases: IMD73B	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Aliases: IMD73A neutrophil immunodeficiency syndrome	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	Prg2	58826	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	Mest	58827	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111096	Fanconi anemia complementation group O Aliases: FANCO	RAD51C	5889	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	Sumf1	58911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060583	Noonan syndrome 5 Aliases: NS5	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080549	Noonan syndrome with multiple lentigines 2 Aliases: LEOPARD syndrome 2	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	Robo1 Slc6a1	58946 79212	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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