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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2401 - 2425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:10783	methemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	APRT CYP19A1 SDC1	1588 353 6382	Homo sapiens (human)
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:100	intestinal infectious disease Aliases: bacterial enteritis	APRT FDPS ICAM1 IL18R1 LCT LYZ PLA2G4A ST8SIA2	2224 3383 353 3938 4069 5321 8128 8809	Homo sapiens (human)
DOID:12376	juvenile spinal muscular atrophy Aliases: Kugelberg-Welander disease SMA3 Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	APRT HPRT1 PNP UMPS	3251 353 4860 7372	Homo sapiens (human)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1 PNP	3251 353 4860	Homo sapiens (human)
DOID:4992	optic nerve glioma Aliases: glioma of the optic nerve	APRT PIK3CA PIK3CB PIK3CD PIK3CG	353 5290 5291 5293 5294	Homo sapiens (human)
DOID:6576	childhood optic nerve glioma Aliases: glioma of the pediatric visual pathway	APRT PIK3CA PIK3CB PIK3CD PIK3CG	353 5290 5291 5293 5294	Homo sapiens (human)
DOID:4306	radiculopathy Aliases: pinched nerve	APRT TNF	353 7124	Homo sapiens (human)
DOID:0060280	primary pigmented nodular adrenocortical disease	APRT	353	Homo sapiens (human)
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	APRT	353	Homo sapiens (human)
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	ARSA ARSB ARSG DEGS1 FUT1 GALC GALNS GBA1 GLB1 IDS PSAP SMPD1 STS SUMF1	22901 2523 2581 2588 2629 2720 285362 3423 410 411 412 5660 6609 8560	Homo sapiens (human)
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	ARSA ARSD CHI3L1 MLYCD PTGS2	1116 23417 410 414 5743	Homo sapiens (human)

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