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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 **951 - 975** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070473	Zaki syndrome	WLS	79971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070474	childhood-onset neurodegeneration with brain atrophy Aliases: CONDBA childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	UBTF	7343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070483	Watson syndrome	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	SPRED1	161742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23 Aliases: MC4DN23	COX11	1353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	PTPA	5524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	SLC6A2 SLC6A3	6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	SLC18A2	6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources

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