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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 **9451 - 9475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:9649	congenital nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	Axn Delta N PIG-Z Pgk Sin3A Tpi mew mys ph-p scrib shg shot	19835548 31181 31293 32275 33461 36382 36542 37386 42313 43565 43582 44448 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIG-V	19835383	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	BMP4 EIF4EBP1 FLNA MMP9 RHEB TSC1 TSC2	1978 2316 4318 6009 652 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:4175	Rh isoimmunization Aliases: Rh incompatibility affecting management of mother	Rhd	19746	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050641	Rh deficiency syndrome	Rhag	19743	Mus musculus (house mouse)	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
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	Alliance of Genome Resources
DOID:14694	Johanson-Blizzard syndrome Aliases: JBS	UBR1	197131	Homo sapiens (human)	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: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:0080204	renal hypoplasia	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	Rest	19712	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:0080827	human cytomegalovirus infection	Ren1	19701	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: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:0060322	mastoiditis	Rela Tlr2 Tlr4	19697 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	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:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	EIF2S3 SMPD3	1968 55512	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: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

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