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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1476 - 1500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	r-l	42493	Drosophila melanogaster (fruit fly)
DOID:0050833	orotic aciduria	r-l	42493	Drosophila melanogaster (fruit fly)
DOID:0110970	brachydactyly type C Aliases: BDC	MGAM MGAT3 SI	4248 6476 8972	Homo sapiens (human)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	MGAT2	4247	Homo sapiens (human)
DOID:0070194	autosomal recessive chronic granulomatous disease 3 Aliases: CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency	MGAT2	4247	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st	42380	Drosophila melanogaster (fruit fly)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st	42380	Drosophila melanogaster (fruit fly)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	42146	Drosophila melanogaster (fruit fly)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	sll	42115	Drosophila melanogaster (fruit fly)
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	41867	Drosophila melanogaster (fruit fly)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Glys	41823	Drosophila melanogaster (fruit fly)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Glys	41823	Drosophila melanogaster (fruit fly)
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)
DOID:9861	miliary tuberculosis Aliases: Disseminated tuberculosis Tuberculosis miliaris disseminata acute miliary tuberculosis generalized tuberculosis	MBL2	4153	Homo sapiens (human)
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	MBL2	4153	Homo sapiens (human)
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2	4153	Homo sapiens (human)

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