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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 **5876 - 5900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050958	spinocerebellar ataxia type 7	ATXN7 ATXN7L1	222255 6314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14 Aliases: DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:12528	lesion of sciatic nerve	RGS3	5998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080356	IgG4-related disease	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	DIAPH1	1729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1 RERE	1822 473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ANK2 ARHGAP36 KCNE1 KCNE2 KCNH2 KCNH6 KCNH7 KCNQ1 KCNQ2 KCNQ3 KCNQ5 SCN5A	158763 287 3753 3757 3784 3785 3786 56479 6331 81033 90134 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	NFU1	27247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	PAK3	5063	Homo sapiens (human)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	AGFG1 CFAP58 CFAP61 PPP4C SPATA20	159686 26074 3267 5531 64847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:12557	Duane retraction syndrome Aliases: Duane's syndrome Stilling-Turk-Duane syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070297	primary microcephaly Aliases: true microcephaly	CIT KNL1	11113 57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	CHIA	27159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	KLC2	64837	Homo sapiens (human)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	NOSIP PGAP1 PIGN PLCH1 PTCH1 SHH TGIF1 ZIC4	23007 23556 51070 5727 6469 7050 80055 84107	Homo sapiens (human)	Alliance of Genome Resources

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