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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 **451 - 475** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
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:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	STIM1	6786	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: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: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:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	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:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	EDNRA	1909	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: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: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: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: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:0060372	Parkinson's disease 15 Aliases: Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome	FBXO7	25793	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	SAMHD1	25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060393	chromosome 15q11.2 deletion syndrome Aliases: 15q11.2 microdeletion syndrome	CYFIP1 CYFIP2 UBE3A	23191 26999 7337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	OTUD7A TRPM1 TRPM3 TRPM6	140803 161725 4308 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	SIN3A	25942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	SH2B1	25970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	MOSMO POLR3E UQCRC2	55718 730094 7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	NFIA	4774	Homo sapiens (human)	Alliance of Genome Resources

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