Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype BEFREE We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements. 31775791 2019
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype BEFREE A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211 2018
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 29100094 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 CausalMutation phenotype CLINVAR
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		0.310 GeneticVariation disease BEFREE Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. 29100093 2017
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		0.310 GermlineCausalMutation disease ORPHANET Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. 29100093 2017
CUI: C2931653
Disease: Petty Laxova Wiedemann syndrome
Petty Laxova Wiedemann syndrome 		0.300 GermlineCausalMutation disease ORPHANET De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 29100094 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.110 GeneticVariation disease BEFREE De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.110 Biomarker disease HPO
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0017638
Disease: Glioma
Glioma 		0.100 GeneticVariation disease GWASDB Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.100 GeneticVariation group GWASDB Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO