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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 **6476 - 6500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	Robo1 Robo2 Robo3 Slc25a10 Slc6a1 Vars1	19649 19876 22321 232333 268902 27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANO6	196527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080297	Coffin-Siris syndrome 6	ARID2	196528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	Rbp3	19661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050912	colon adenoma	Rbp4 Tet2	19662 214133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	EIF2B1 EIF2B4	1967 8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	EIF2S3 SMPD3	1968 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060801	MEHMO syndrome Aliases: MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25	EIF2S3	1968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	Rela Tlr2 Tlr4	19697 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	Reln	19699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	Reln	19699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	AHSG	197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080827	human cytomegalovirus infection	Ren1	19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	Rest	19712	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	Rest	19712	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14694	Johanson-Blizzard syndrome Aliases: JBS	UBR1	197131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	Rhag	19743	Mus musculus (house mouse)	Alliance of Genome Resources

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