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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 **9126 - 9150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080789	Treacher Collins syndrome 1	Tcof1	21453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	Nipal4	214112	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Slc24a1	214111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	Shank3 Tcf20	21411 58234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	Slc18a2	214084	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	Ndnf Tcf12	21406 68169	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	Cntnap2 Tcf12 Tcf4	21406 21413 66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	Tnrc6b	213988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	Tbx3	21386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111837	congenital nongoitrous hypothyroidism 8 Aliases: CHNG8	Tbl1x	21372	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050155	sensory system disease	Tbl1x	21372	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111758	Y-linked deafness 2 Aliases: DFNY2	Tbl1x	21372	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	Cntn2	21367	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	Cntn2 Zeb2	21367 24136	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	Tacr3	21338	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	Tacr1	21336	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080980	arthrogryposis multiplex congenita-4 Aliases: Zain syndrome	Scyl2	213326	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	EXT1 EXT2 EXTL1 EXTL3	2131 2132 2134 2137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060793	hypomyelinating leukodystrophy 5 Aliases: HLD5 hypomyelination-congenital cataract syndrome	Hycc1 Hycc2	213056 84652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	EWSR1 KDM3A	2130 55818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:112	esophageal varix Aliases: Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding	ALB	213	Homo sapiens (human)	Alliance of Genome Resources

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