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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 **11751 - 11775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	wif1.S	399375	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050775	schneckenbecken dysplasia	frc	39943	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	Oatp74D	39954	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110651	long QT syndrome 10 Aliases: LQT10	Scn4b	399548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112215	developmental and epileptic encephalopathy 79 Aliases: DEE79 early infantile epileptic encephalopathy 79	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	Grd	39984	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	LMNA LMNB1 LMNB2 SIRT6 VCPIP1	4000 4001 51548 80124 84823	Homo sapiens (human)	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	DOT1L LMNA LMNB1 LMNB2	4000 4001 84444 84823	Homo sapiens (human)	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	4000 4001 84823	Homo sapiens (human)	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	4000 4001 84823	Homo sapiens (human)	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	4000 4001 84823	Homo sapiens (human)	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	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	FTO LMNA MMP2 SMAD6	4000 4091 4313 79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	BLM LMNA	4000 641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070370	restrictive dermopathy 2	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:66	muscle tissue disease	LMNA	4000	Homo sapiens (human)	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	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	LMNA	4000	Homo sapiens (human)	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	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	LMNA	4000	Homo sapiens (human)	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	4001	Homo sapiens (human)	Alliance of Genome Resources

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