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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 **7226 - 7250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	63840	Rattus norvegicus (Norway rat)
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	Per2	63840	Rattus norvegicus (Norway rat)
DOID:7505	small intestine benign neoplasm Aliases: neoplasm of small intestine small intestinal neoplasm	SDHA SDHB SDHC	6389 6390 6391	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:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	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:4265	angiomyoma Aliases: vascular leiomyoma	SDHB	6390	Homo sapiens (human)
DOID:0080347	malignant pheochromocytoma Aliases: Pheochromocytoma, malignant	SDHB	6390	Homo sapiens (human)
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:0112313	brain small vessel disease	NR1D1 SELP	6403 9572	Homo sapiens (human)
DOID:3650	lactic acidosis	Dlat Pygl	64035 81654	Rattus norvegicus (Norway rat)
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	64035	Rattus norvegicus (Norway rat)
DOID:0060540	Hermansky-Pudlak syndrome 2	GOLPH3	64083	Homo sapiens (human)
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)
DOID:0060549	Barber-Say syndrome	XYLT1	64131	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Enpp1 Xylt1 Xylt2	64133 64134 85496	Rattus norvegicus (Norway rat)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Xylt1	64133	Rattus norvegicus (Norway rat)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	poglut1	641495	Danio rerio (zebrafish)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	64201	Rattus norvegicus (Norway rat)
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:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)

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