GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5526 - 5550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111496	combined oxidative phosphorylation deficiency 17 Aliases: COXPD17	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111753	infantile hypertrophic cardiomyopathy	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080178	mucositis	ELANE MKI67 MUC2 MUC4 NOS2 PCNA ULK1	1991 4288 4583 4585 4843 5111 8408	Homo sapiens (human)	Alliance of Genome Resources
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ELK3 ITGA9	2004 3680	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	ELN LTA TNF VEGFA	2006 4049 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ELN	2006	Homo sapiens (human)	Alliance of Genome Resources
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ELO2 ELO3 PXA1 PXA2	850400 851087 853647 855956	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELO2 ELO3	850400 851087	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELO3 YLR001C	850687 851087	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELO3	851087	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081220	autosomal recessive intellectual developmental disorder 58	ELP2	55250	Homo sapiens (human)	Alliance of Genome Resources
DOID:12271	aniridia Aliases: Aplasia of iris isolated aniridia	ELP4	26610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	23065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	850312	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	EMC1	850312	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	EMD HOOK1 LEMD2 LEMD3 LMNA LMNB1 LMNB2 SYNE1 SYNE2	2010 221496 23224 23345 23592 4000 4001 51361 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	EMD	2010	Homo sapiens (human)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	EMI2 ERS1 GAC1 GIP2 GLK1 HXK1 HXK2	850317 850438 850614 852128 852639 854350 856781	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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