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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 **13901 - 13925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	Ndufb8	67264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	Cltc	67300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110077	arrhythmogenic right ventricular dysplasia 9 Aliases: ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9	Pkp2	67451	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	Ergic1	67458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	Snap29	67474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	Cog6	67542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	Slc39a8	67547	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13	67574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	Tctn3	67590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	Tctn3	67590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	Necap1	67602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	ST14	6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111944	immunodeficiency 31B Aliases: IMD31B autosomal recessive STAT1 deficiency autosomal recessive immunodeficiency 31B, mycobacterial and viral infections predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111945	immunodeficiency 31A Aliases: IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111946	immunodeficiency 31C Aliases: CANDF7 IMD31C autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C familial candidiasis 7	STAT1	6772	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	67728	Mus musculus (house mouse)	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	67728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111975	immunodeficiency 44 Aliases: IMD44	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:9997	peripartum cardiomyopathy Aliases: antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy	STAT3	6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081373	disabling pansclerotic morphea Aliases: disabling pansclerotic morphea of childhood	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources

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