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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 **13726 - 13750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110527	autosomal recessive nonsyndromic deafness 8 Aliases: DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8	TMPRSS3	64699	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111629	dihydropyrimidinase deficiency Aliases: DPH deficiency DPYS deficiency DPYSD dihydropyrimidinuria	Dpys	64705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080261	autosomal recessive nonsyndromic deafness 106	EPS8L2	64787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LMF1	64788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	P2ry12	64803	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	P2RY12	64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	64828	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	KLC2	64837	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	VWA1	64856	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111979	immunodeficiency 49 Aliases: IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	64919	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	Tsc1	64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	Tsc1	64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	SIX1	6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060369	Parkinson's disease 6 Aliases: PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6	PINK1	65018	Homo sapiens (human)	Alliance of Genome Resources

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