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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:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	mpz.S	100037196	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	LITAF	9516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110150	Charcot-Marie-Tooth disease type 1D Aliases: CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	Nefl	83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	Nefl	18039	Mus musculus (house mouse)	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	5376	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
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	24660	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: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: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: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	clcnkb.L	378616	Xenopus laevis (African clawed frog)	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	Clcnka Clcnkb	12733 56365	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: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: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:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources

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