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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 **8501 - 8525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050939	uterine corpus endometrial carcinoma	SF3B1	23451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	Colgalt1	234407	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060201	amyotrophic lateral sclerosis type 10 Aliases: ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia	TARDBP	23435	Homo sapiens (human)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	MAP2K6 MAPT OGG1 SOD1 TARDBP	23435 4137 4968 5608 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111406	Fraser syndrome 3 Aliases: FRASRS3	GRIP1	23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110247	cataract 36 Aliases: CATC4 CTRCT36 autosomal recessive congenital cataract 4	TDRD7	23424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080615	nephroma Aliases: benign nephroma	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050489	multinodular goiter	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081063	DICER1 syndrome Aliases: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2	23404	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050857	Perrault syndrome	HSD17B4 LARS2	23395 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070058	Helsmoortel-Van Der Aa Syndrome Aliases: HVDAS MRD28 autosomal dominant mental retardation 28	ADNP	23394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	Fus	233908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3382	liposarcoma Aliases: lipomatous cancer	Fus Il22	233908 50929	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	Setd1a	233904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 CFC1B HSPG2 MED13L SLC19A1	23389 3339 55997 653275 6573	Homo sapiens (human)	Alliance of Genome Resources

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