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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 **8976 - 9000** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	POX1	852667	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	Acox2	93732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	Abcd3	19299	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	Abcd3	25270	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	PXA1	855956	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	ABCD3	5825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	galnt3	100488466	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	366061 83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	GALNT3 GOLGB1 KL	2591 2804 9365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	14425 16591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	klo-1	177557	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	galnt3	100331984	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Pgant1 Pgant3	35627 36717	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	APOB	338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3 APOB	27329 338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Angptl3 Apob	238055 30924	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	sca	36411	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	Gp1ba	14723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources

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