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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 **9501 - 9525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080471	developmental and epileptic encephalopathy 92	GABRB2	2561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	GABRB1	2560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112215	developmental and epileptic encephalopathy 79 Aliases: DEE79 early infantile epileptic encephalopathy 79	GABRA5	2558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	GABRA2	2555	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	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 LIG1	2554 3978 9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	GABBR2	9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	GAB1	2549	Homo sapiens (human)	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	2548	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database 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: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:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6pd	24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13628	favism	G6pd	24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6pd Gpi Hk1 Pklr	24377 24651 25058 292804	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	303565	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	25634	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6PD	2539	Homo sapiens (human)	Alliance of Genome Resources
DOID:13628	favism	G6PD	2539	Homo sapiens (human)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6PD GPI HK1 PKLR	2539 2821 3098 5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6PC1 SLC37A4	2538 2542	Homo sapiens (human)	Alliance of Genome Resources

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