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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 **7951 - 7975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3 Clcn5	12725 12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3	84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	Ihh	16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111817	syndactyly type 3 Aliases: SDTY3 ringand little finger syndactyly syndactyly of fingers 4 and 5 syndactyly, type III	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111819	syndactyly type 5 Aliases: SDTY5 syndactyly with associated metacarpal and metatarsal fusion	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	Mbtps2	270669	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POL1	855621	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111835	congenital nongoitrous hypothyroidism 9 Aliases: CHNG9	IRS4	8471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	Trhr	25570	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	Trhr	22045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	TRHR	7201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111837	congenital nongoitrous hypothyroidism 8 Aliases: CHNG8	Tbl1x	21372	Mus musculus (house mouse)	Alliance of Genome Resources

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