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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 **8626 - 8650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060812	syndromic X-linked intellectual disability Siderius type Aliases: MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type	PHF8	23133	Homo sapiens (human)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	Cwh43	231293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110098	atopic dermatitis 2 Aliases: ATOD2	FLG	2312	Homo sapiens (human)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	FLG LBR	2312 3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 RHCG	231 51458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	KIF1B	23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110262	cataract 45 Aliases: CTRCT45	SIPA1L3	23094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111025	cone-rod dystrophy 19 Aliases: CORD19	TTLL5	23093	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	ARHGAP26 CBFB FLT3 GMPS	23092 2322 865 8833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111122	nephronophthisis 14 Aliases: NPHP14	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:2786	cerebellar disease	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ZIC4 ZNF423	23090 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	FOXO3	2309	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	Emc1	230866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060239	Van der Woude syndrome	Grhl3	230824	Mus musculus (house mouse)	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	Pigv	230801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	FOXO1	2308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	Ahdc1	230793	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	23065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources

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