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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 **4501 - 4525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	Lmna Lmnb1 Lmnb2 Sirt6 Vcpip1	16905 16906 16907 50721 70675	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	Fto Lmna Mmp2	16905 17390 26383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	Lmna Wrn	16905 22427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070370	restrictive dermopathy 2	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110156	Charcot-Marie-Tooth disease type 2B1 Aliases: CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:66	muscle tissue disease	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	Lmnb1	16906	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9 Aliases: EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9	Lmnb2	16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080299	partial lipodystrophy	Lmnb2	16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	KCNV2	169522	Homo sapiens (human)	Alliance of Genome Resources
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	Lpl	16956	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080751	keratosis pilaris atrophicans	Lrp1	16971	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	Lrp1	16971	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	Lrp5	16973	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	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources

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