GlyCosmos Portal

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

Displaying entries **1926 - 1950** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
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: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:0090026	split hand-foot malformation 6 Aliases: SHFM6	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	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:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	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:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)
DOID:0090038	torsion dystonia 2	ALDH5A1	7915	Homo sapiens (human)
DOID:0090039	torsion dystonia 6	ALDH5A1	7915	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)
DOID:0090047	paroxysmal nonkinesigenic dyskinesia 2	ST3GAL5	8869	Homo sapiens (human)
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:0090050	dystonia 27	ALDH5A1	7915	Homo sapiens (human)
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	ACE APRT COMT GAL3ST1 INPP5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PTEN SELE SLC35A1	10559 1312 1636 342372 353 5130 5290 5291 5293 5294 5310 5311 5313 56623 5728 6401 8394 9514	Homo sapiens (human)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)

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