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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 **8776 - 8800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9282	ocular hypertension	ACSM3 APOA1 C3 CRYAA FAS GLI1 MMP1 MMP2 MMP9 MYOC OPA1 SHH SMO SOD1 TPI1	1409 2735 335 355 4312 4313 4318 4653 4976 6296 6469 6608 6647 7167 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	fgfr1.L fgfr1.S gdnf.L	397782 399444 779087	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080827	human cytomegalovirus infection	Kir3dl1 Ren	24715 353253	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111743	cerebellar ataxia type 47 Aliases: SCA47	PUF3	850647	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	80903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3326	purpura Aliases: Purpuric disorder	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080719	congenital myopathy 6 Aliases: inclusion body myopathy 3 proximal myopathy and ophthalmoplegia	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	LALBA TGFA	3906 7039	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13963	nuclear senile cataract Aliases: Senile nuclear cataract Senile nuclear sclerosis	FTO	79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	pon2 slc17a7 tpi1	100038162 448598 780064	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070154	hereditary sensory neuropathy type 1F Aliases: HSN1F hereditary sensory neuropathy type IF	ATL3	25923	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	Sec23b	27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	Pxn	38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome Aliases: DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5	Ltbp3	16998	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111769	46,XY sex reversal 6 Aliases: 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related 46,XY sex reversal, partial or complete, MAP3K1-related SRXY6	MAP3K1	4214	Homo sapiens (human)	Alliance of Genome Resources
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	BRCA2 FANCD2 FANCG FANCM FLT3LG IFNG IL10 PRF1 RAD51C TNF	2177 2189 2323 3458 3586 5551 57697 5889 675 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	sgl	38760	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	315807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)	Alliance of Genome Resources

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