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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 **8526 - 8550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	Lipn	70166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081215	autosomal recessive intellectual developmental disorder 52	Lman2l	214895	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	246046	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	68421	Mus musculus (house mouse)	Alliance of Genome Resources
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: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: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: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: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:66	muscle tissue disease	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: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:0070370	restrictive dermopathy 2	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:0050820	atrioventricular block Aliases: AV block	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:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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