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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4601 - 4625** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	Gpc3	14734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	Gp1ba Gp1bb	14723 14724	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111574	autosomal recessive woolly hair 3 Aliases: ARWH3	KRT25	147183	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	Gnrhr	14715	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	Gnmt	14711	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	Abcb4 Gnmt Krt18 Myc Nfe2l1 Uaca	14711 16668 17869 18023 18670 72565	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	VMA12	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:4184	pseudohypoparathyroidism Aliases: PHP	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	pseudohypoparathyroidism type 1A Aliases: Albright hereditary osteodystrophy Albright's hereditary osteodystrophy PHP Ia	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism PPHP	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080450	developmental and epileptic encephalopathy 17 Aliases: DEE17 early infantile epileptic encephalopathy 17	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	Gnai2	14678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112163	spermatogenic failure 45 Aliases: SPGF45	DNAH2	146754	Homo sapiens (human)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: GM2 Activator Deficiency Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	Glrb	14658	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	Glra1	14654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	Glra1	14654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Glul Kcna1 Slc32a1	14645 16485 22348	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources

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