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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 **14076 - 14100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	Lgr5	299802	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	lgr5	100486389	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	Lgr5	14160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	SERPINF2	5345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	Spn28Dc	34091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	Serpinf2	18816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060599	Nance-Horan syndrome	NHS	4810	Homo sapiens (human)	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	htl	42160	Drosophila melanogaster (fruit fly)	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	79114	Rattus norvegicus (Norway rat)	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: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.L fgfr1.S	397782 399444	Xenopus laevis (African clawed frog)	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	548648	Xenopus tropicalis (tropical clawed frog)	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	fgfr1a	30705	Danio rerio (zebrafish)	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	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	Cxcr4	12767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	CXCR4	7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	cxcr4.L cxcr4.S	100192360 380373	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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