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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 **8426 - 8450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	Slc13a5	237831	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050667	alcohol-related neurodevelopmental disorder Aliases: ARND static encephalopathy	Slc13a5 Tmcc2	237831 68875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111996	immunodeficiency 51 Aliases: CANDF5 IMD51 familial candidiasis 5	IL17RA	23765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080269	autosomal dominant nonsyndromic deafness 73	Ptprq	237523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110529	autosomal recessive nonsyndromic deafness 84A Aliases: DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction	Ptprq	237523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	237500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110412	retinitis pigmentosa 23 Aliases: RP23	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060316	orofaciodigital syndrome I Aliases: Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110981	Joubert syndrome 10 Aliases: JBTS10	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	Glra2	237213	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	Adgrg2	237175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	Slc9a6	236794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111735	X-linked deafness 4 Aliases: DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6	SMPX	23676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	Rbm10	236732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	Slc9a7	236727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	Nyx	236690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	AP3B1 CCL5 CXCR4 DTNBP1 SLC7A11	23657 6352 7852 84062 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	PPP1R15A TNF	23645 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NUP62	23636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050473	Alstrom syndrome	Alms1	236266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	BACE1	23621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112245	focal segmental glomerulosclerosis 3 Aliases: FSGS3	CD2AP	23607	Homo sapiens (human)	Alliance of Genome Resources

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