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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 **3526 - 3550** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080261	autosomal recessive nonsyndromic deafness 106	EPS8L2	64787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080260	autosomal recessive spinocerebellar ataxia 26 Aliases: SCAR26	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080245	Galloway-Mowat syndrome 3	OSGEP	55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080244	Galloway-Mowat syndrome 2	LAGE3	8270	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080239	autosomal recessive intellectual developmental disorder 61 Aliases: Alwadei syndrome autosomal recessive intellectual developmental disorder-61 autosomal recessive mental retardation 61	RUSC2	9853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080234	Clark-Baraitser syndrome Aliases: Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49	TRIP12	9320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080232	autosomal dominant intellectual developmental disorder 51 Aliases: autosomal dominant mental retardation 51	KMT5B	51111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	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	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources

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