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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 **3726 - 3750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	G6pd2 G6pdx Nefh	14380 14381 380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13628	favism	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	14387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	Gab1	14388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	Gabra1 Lgi1	14394 56839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	Gabra1	14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Gabra1	14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	Gabra2	14395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10247	pleurisy	ALOX5 ANXA1 BDKRB1 BDKRB2 CCL11 CSF3 ELANE ESR1 ICAM1 IL15 IL17A IL1RN NOS2 PLA2G6 PTAFR PTGS2 SERPINE1 TNF	1440 1991 2099 240 301 3383 3557 3600 3605 4843 5054 5724 5743 623 624 6356 7124 8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	CSF3 FGFR1 GATA2 IFNG IGFBP3 MN1 MPL NSD3 PDGFRA PECAM1 SNCA UGT1A1	1440 2260 2624 3458 3486 4330 4352 5156 5175 54658 54904 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	CSF3 NOS3	1440 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	CSF3	1440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	Gabrb1	14400	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080471	developmental and epileptic encephalopathy 92	Gabrb2	14401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080447	developmental and epileptic encephalopathy 43 Aliases: DEE43 early infantile epileptic encephalopathy 43	Gabrb3	14402	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	Gabrd Il10	14403 16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	Gabrd	14403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	Gabrg1	14405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112210	developmental and epileptic encephalopathy 74 Aliases: DEE74 early infantile epileptic encephalopathy 74	Gabrg2	14406	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111298	familial febrile seizures 8 Aliases: FEB8 familial febrile convulsions 8	Gabrg2	14406	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 KDM6A TET2	1441 171023 2146 54790 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ASXL1 CBL CSF3R PDGFRB TET2	1441 171023 5159 54790 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources

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