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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 **1676 - 1700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050793	short QT syndrome	Kcnh2 Kcnq1 Slc4a3	117018 24781 84020	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	cdh1 clptm1l csf1ra fgfr4 myca mycb notch1a	100000160 114424 30686 30718 393141 436653 64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SLP1	854325	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	Ccn6	327743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	fktn	100124956	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	daf-2 pgal-1 ver-1 ver-4	172108 175182 175410 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	105193 13853 14936 232493	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	Cryab	12955	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080388	nephrotic syndrome type 7 Aliases: Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis	DGKE	8526	Homo sapiens (human)	Alliance of Genome Resources
DOID:12336	male infertility	Actl7a Adamts16 Bscl2 Csnk2a2 Fas Kit	11470 13000 14102 14705 16590 271127	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	MMP13	4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	Atpalpha	48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081394	Caroli syndrome	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	ANO5 FKTN	203859 2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	Calr	12317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	Amh	25378	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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