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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 **701 - 725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
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:0060540	Hermansky-Pudlak syndrome 2	GOLPH3	64083	Homo sapiens (human)
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:3650	lactic acidosis	Dlat Pygl	64035 81654	Rattus norvegicus (Norway rat)
DOID:0112313	brain small vessel disease	NR1D1 SELP	6403 9572	Homo sapiens (human)
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:0080347	malignant pheochromocytoma Aliases: Pheochromocytoma, malignant	SDHB	6390	Homo sapiens (human)
DOID:4265	angiomyoma Aliases: vascular leiomyoma	SDHB	6390	Homo sapiens (human)
DOID:9553	adrenal gland disease	SDHB	6390	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: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: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)
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	SDC1	6382	Homo sapiens (human)
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	SDC1	6382	Homo sapiens (human)
DOID:2661	myoepithelioma Aliases: Myoepithelial adenoma Myoepithelial neoplasm benign myoepithelioma	OGT SDC1	6382 8473	Homo sapiens (human)
DOID:11786	splenic sequestration	SCD	6319	Homo sapiens (human)
DOID:12358	patulous eustachian tube	SCD	6319	Homo sapiens (human)
DOID:10864	partial third-nerve palsy Aliases: Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial	ACSM3	6296	Homo sapiens (human)
DOID:11550	oculomotor nerve paralysis Aliases: III nerve palsy IIIrd nerve Paralysis Third cranial nerve paralysis	ACSM3	6296	Homo sapiens (human)

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