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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 **7876 - 7900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110647	long QT syndrome 5 Aliases: LQT5	KCNE1	3753	Homo sapiens (human)	Alliance of Genome Resources
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	KCNE1 KCNQ1	3753 3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050963	spinocerebellar ataxia type 13	KCNC3	3748	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	KCNC2	3747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111447	progressive myoclonus epilepsy 7 Aliases: EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7	KCNC1	3746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	KCNA2	3737	Homo sapiens (human)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	KCNA10	3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7	3736 3737 3738 3739 3743 3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110995	Joubert syndrome 26 Aliases: JBTS26	KATNIP	23247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112236	lissencephaly 6 Aliases: LIS6	KATNB1	10300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	KAT6B	23522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070062	Arboleda-Tham syndrome Aliases: ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32	KAT6A	7994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110534	autosomal recessive nonsyndromic deafness 89 Aliases: DFNB89 autosomal recessive deafness 89	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050987	hypomyelinating leukoencephalopathy	KARS1 VPS11	3735 55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	KAR2	853418	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5199	ureteral obstruction	KAR2 STE20	853418 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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