GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1151 - 1175** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	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: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: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:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080244	Galloway-Mowat syndrome 2	LAGE3	8270	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080245	Galloway-Mowat syndrome 3	OSGEP	55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	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:0080261	autosomal recessive nonsyndromic deafness 106	EPS8L2	64787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080263	autosomal recessive nonsyndromic deafness 108	ROR1	4919	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080266	primary ciliary dyskinesia 37	DNAH1	25981	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080267	autosomal dominant nonsyndromic deafness 71	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	SLC44A4	80736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080272	nephrotic syndrome type 16	KANK2	25959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	RBM12	10137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	Alliance of Genome Resources

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