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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 **10351 - 10375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	Prps1	19139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	Prpsap1	67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081115	benign familial infantile seizures 2 Aliases: Benign Familial Infantile Seizures, 2	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	Prrx1 Trappc10	18933 216131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	19142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	85266	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	Prss56	69453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	Prx	78960	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Psapl1 Slc7a3 Srebf1 Srebf2	11989 19156 20787 20788 76943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	Psap	19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Slc7a3	25524 29485	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Psap Uqcrc1	25524 301011	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	Psmb1	94198	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081324	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss Aliases: NEDGTH	Psmc1	19179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110455	dilated cardiomyopathy 1U Aliases: CMD1U	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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