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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 **9926 - 9950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:4330	non-Langerhans-cell histiocytosis	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2 Aliases: FHL2 HLH2 HPLH2	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:1787	pericarditis	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	PRICKLE1 ROR2	144165 4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	PRKAR1A PTEN	5573 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060280	primary pigmented nodular adrenocortical disease	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:3774	chordoid glioma Aliases: Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma	PRKCA	5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111961	immunodeficiency 26 Aliases: IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090048	dystonia 16	PRKRA	8575	Homo sapiens (human)	Alliance of Genome Resources
DOID:10937	impulse control disorder	PRL	5617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	PRLR RET	5618 5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090103	Huntington's disease-like 1 Aliases: HDL1 HLN1 Huntington disease-like 1 Huntington-like neurodegenerative disorder 1 autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	PROC SERPINF1	5176 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency Aliases: THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources

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