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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 **2176 - 2200** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111485	combined oxidative phosphorylation deficiency 24 Aliases: COXPD24	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111481	combined oxidative phosphorylation deficiency 11 Aliases: COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect	RMND1	55005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	MTO1	25821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111479	combined oxidative phosphorylation deficiency 8 Aliases: COXPD8	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111478	combined oxidative phosphorylation deficiency 20 Aliases: COXPD20	VARS1	7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111474	combined oxidative phosphorylation deficiency 1 Aliases: COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GFM1	85476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111473	combined oxidative phosphorylation deficiency 5 Aliases: COXPD5 hypotonia with lactic acidemia and hyperammonemia	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111471	combined oxidative phosphorylation deficiency 30 Aliases: COXPD30	TRMT10C	54931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111469	combined oxidative phosphorylation deficiency 16 Aliases: COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	MRPL44	65080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111467	combined oxidative phosphorylation deficiency 13 Aliases: COXPD13	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111465	combined oxidative phosphorylation deficiency 21 Aliases: COXPD21	TARS2	80222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111464	combined oxidative phosphorylation deficiency 35 Aliases: COXPD35	TRIT1	54802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111463	cardiofaciocutaneous syndrome 4 Aliases: CFC4	MAP2K2	5605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	MAP2K1	5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111461	cardiofaciocutaneous syndrome 2 Aliases: CFC2	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GALT	2592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE	2582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111457	STING-associated vasculopathy with onset in infancy Aliases: SAVI	STING1	340061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9 Aliases: EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	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

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