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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 **6001 - 6025** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)
DOID:0090039	torsion dystonia 6	ALDH5A1	7915	Homo sapiens (human)
DOID:0090038	torsion dystonia 2	ALDH5A1	7915	Homo sapiens (human)
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)
DOID:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)
DOID:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:0090029	CINCA Syndrome Aliases: IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease	FCGR3B PLCG2 RPE	2215 5336 6120	Homo sapiens (human)
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss Aliases: SHFM1D congenital deafness with split hands and feet	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090022	split hand-foot malformation 5 Aliases: SHFM5	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090021	split hand-foot malformation 1 Aliases: SHFD1 SHFM1	CLEC1B PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG QTRT1 UGT8	51266 5130 5290 5291 5293 5294 7368 81890	Homo sapiens (human)
DOID:0090020	split hand-foot malformation Aliases: lobster-claw deformity split-hand deformity	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	CD14 CYP17A1 FCGR3B IL18R1 PC PIK3CA PIK3CB PIK3CD PIK3CG SIGLEC7	1586 2215 27036 5091 5290 5291 5293 5294 8809 929	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)

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