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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 **5501 - 5525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	dbl-1	179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	BMP4 FOXC1	2296 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	BBS9	27241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	Bbs9	319845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	Cep290 Tmem67	216274 329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	Slc12a1	20495	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	Kcnj1	56379	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	Clcnkb	79430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	Clcnka Clcnkb	12733 56365	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	clcnkb.L	378616	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	Clcnka Clcnkb	12733 56365	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	clcnkb.L	378616	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	Clcnkb	79430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110147	Bartter disease type 5 Aliases: BARTS5 Bartter syndrome, type 5, antenatal, transient	MAGED2	10916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources

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