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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 **4201 - 4225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060371	Parkinson's disease 8 Aliases: autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8	LRRK1 LRRK2	120892 79705	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060370	Parkinson's disease 7 Aliases: autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7	PARK7	11315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060369	Parkinson's disease 6 Aliases: PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6	PINK1	65018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	EDNRA	1909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	ETFB	2109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060356	Vici syndrome Aliases: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum	EPG5	57724	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060355	amyotrophic lateral sclerosis type 22 Aliases: ALS 22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22	TUBA4A	7277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1 EHMT2	10919 79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	FOXH1	8928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	HSPA9	3313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	RELA TLR2 TLR4	5970 7097 7099	Homo sapiens (human)	Alliance of Genome Resources

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