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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 **76 - 100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110984	Joubert syndrome 15 Aliases: JBTS15	CEP41	95681	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:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6PD	9563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	ENTPD1	953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	MPDU1	9526	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	LITAF	9516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	SCARB2	950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	HOMER2	9455	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	EIF2AK3	9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081190	autosomal recessive intellectual developmental disorder 18	MED23	9439	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources

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