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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 **4251 - 4275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	Enam	13801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110877	holoprosencephaly 11 Aliases: HPE11	Cdon	57810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Gemin5	216766	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	Cyp2c29	13095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	Angpt2 Cad	11601 69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	Fas Lamp2	14102 16784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081137	agammaglobulinemia 3	Cd79a	12518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	Huwe1 Phf8 Taf1	270627 320595 59026	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3	12266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	Aldoc Anxa5	11676 11747	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	Ifngr1	15979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	Aldh7a1	110695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	Hsd11b1	15483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12714	Ellis-Van Creveld syndrome Aliases: Chondroectodermal dysplasia mesoectodermal dysplasia	Evc2 Evc	59056 68525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	Fgfr1	14182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	Slc26a5	80979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110791	hereditary spastic paraplegia 3A Aliases: FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:150	disease of mental health	Cic Stx1a	20907 71722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5113	nutritional deficiency disease	Sod1	20655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	17364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	Adamts13 C3 Cd46 Cfb Cfh Cfhr1 Cfhr2 Cfhr4 Cfi Thbd	12266 12628 12630 14962 17221 214403 21824 279028 50702 545366	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	Bbs9 Bmp15 Dis3 Fanca Mlh1 Mov10 Msh6 Npm1 Usp36	12155 14087 17350 17454 17688 18148 319845 72344 72662	Mus musculus (house mouse)	Alliance of Genome Resources

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