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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 **4801 - 4825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29701 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29701 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	Scn10a	20264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn7a Scn8a	110876 110880 20264 20265 20269 20271 20272 20273 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn7a Scn8a	110876 110880 20264 20265 20269 20271 20272 20273 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	Scarf2	224024	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	Scarb2	12492	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	Scarb2	117106	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	Sbf1	77980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	Sb	41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	Sb	41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	Sb fz4	31659 41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4441	dysgerminoma	Sb btl htl	39564 41958 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070279	primary autosomal recessive microcephaly 14 Aliases: MCPH14	Sass6	72776	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	Sash1	70097	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070290	primary autosomal recessive microcephaly 6 Aliases: MCPH6	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070010	Seckel syndrome 4 Aliases: SCKL4	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	Sas-4 tay	32547 40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9955	hypoplastic left heart syndrome	Sap130	39455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources

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