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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 **1076 - 1100** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	mca-1	177795	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP2B4	493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	Atp2b1 Atp2b2 Atp2b4	11941 381290 67972	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	NOTCH2	4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	glp-1 lin-12	176282 176286	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	Notch2	18129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31A	22872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31	851332	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	Sec31a Sec31b	240667 69162	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	Apoc3 Cd163 H2-Eb1 Ifng Il1rl1 Il2ra Itgb3	11814 14969 15978 16184 16416 17082 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	Ifng Il1rl1 Il2ra Itgb3	25556 25704 25712 29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	pat-3	175504	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	ALB APOC3 CD163 HLA-DRB1 HLA-DRB5 IFNG IL1RL1 IL2RA ITGB3	213 3123 3127 345 3458 3559 3690 9173 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	Slc6a19	664630	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	Slc6a19	74338	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	SLC6A19	340024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111363	Heinz body anemia	HBA1 HBA2 HBB	3039 3040 3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111363	Heinz body anemia	Gsr	14782	Mus musculus (house mouse)	Alliance of Genome Resources

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