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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 **1601 - 1625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:96	staphyloenterotoxemia Aliases: Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis	SFTPA1	653509	Homo sapiens (human)
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	SFTPA1	653509	Homo sapiens (human)
DOID:0060311	adenoid hypertrophy Aliases: adenoidal hypertrophy enlarged adenoids	SFTPA1 SFTPA2 SFTPD	6441 653509 729238	Homo sapiens (human)
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)
DOID:4265	angiomyoma Aliases: vascular leiomyoma	SDHB	6390	Homo sapiens (human)
DOID:0080347	malignant pheochromocytoma Aliases: Pheochromocytoma, malignant	SDHB	6390	Homo sapiens (human)
DOID:890	mitochondrial encephalomyopathy	SDHB SUCLA2 SUCLG1 TYMP	1890 6390 8802 8803	Homo sapiens (human)
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD SORD	6389 6390 6392 6652	Homo sapiens (human)
DOID:7505	small intestine benign neoplasm Aliases: neoplasm of small intestine small intestinal neoplasm	SDHA SDHB SDHC	6389 6390 6391	Homo sapiens (human)
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	SDC2	6383	Homo sapiens (human)

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