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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 **8901 - 8925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Bub1 Lmnb1 Lmnb2 Ncapd3 Ncaph Pdcd6ip	12235 16906 16907 18571 215387 78658	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110310	hypertrophic cardiomyopathy 4 Aliases: CMH4 cardiomyopathy, familial hypertrophic, 4	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	ncam-1	180418	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	abo.2 abo.3 abo.4 abo pon2	100497509 448598 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	xylt1	560951	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	TRE1 TRE2	854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1	496884	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112205	developmental and epileptic encephalopathy 69 Aliases: DEE69 early infantile epileptic encephalopathy 69	CACNA1E	777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	CDKL5	6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	F12 SERPING1	2161 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:9810	polyarteritis nodosa	gfra1	100125202	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gly-15 gly-16	173109 173114	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	W01F3.2 cpr-3 cpr-4 cpr-6 lron-15 srp-3 zmp-2 zmp-4	174079 175383 178672 179053 179991 180033 180351 180931	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	agtr1.L akt1.S drd5.S gdnf.L hmgcr.L igf1r.S	108705891 397750 398022 398763 399170 779087	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	GRIN2D	2906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070214	familial hyperinsulinemic hypoglycemia 7 Aliases: EIHI HHF7 exercise-induced hyperinsulinemic hypoglycemia exercise-induced hyperinsulinism hyperinsulinism due to SLC16A1 deficiency hyperinsulinism due to monocarboxylate transporter 1 deficiency	ERS1 ESBP6	850438 855598	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	Cry1	299691	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	lron-5	184307	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	Adgrb1 Akt1 Akt2 Akt3 Bst2 Cadm2	24185 25233 29414 360687 362931 378947	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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