PHF21A, PHD finger protein 21A, 51317

N. diseases: 50; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease GENOMICS_ENGLAND This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643 2019
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease BEFREE This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643 2019
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease BEFREE Genetic evidence has implicated haploinsufficiency of PHF21A, a gene that encodes a histone-binding protein, as the likely cause of intellectual disability and craniofacial abnormalities in Potocki-Shaffer Syndrome. 28571721 2018
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease BEFREE Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. 28127865 2017
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease BEFREE Recently, translocations interrupting PHF21A have been associated with intellectual disability and craniofacial anomalies similar to those seen in PSS. 23239541 2013
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease BEFREE Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function. 22770980 2012
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 ChromosomalRearrangement disease ORPHANET Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function. 22770980 2012
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		0.550 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. 31649809 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group GENOMICS_ENGLAND This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 30487643 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE Genetic evidence has implicated haploinsufficiency of PHF21A, a gene that encodes a histone-binding protein, as the likely cause of intellectual disability and craniofacial abnormalities in Potocki-Shaffer Syndrome. 28571721 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE As the chromosomal deletion does not encompass PHF21A, this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. 28127865 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE Disruption of PHF21A has previously been implicated in the causation of intellectual disability (but not aniridia). 27124303 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Recently, translocations interrupting PHF21A have been associated with intellectual disability and craniofacial anomalies similar to those seen in PSS. 23239541 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function. 22770980 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group HPO
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease GENOMICS_ENGLAND De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 30487643 2019
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		0.300 Biomarker disease GENOMICS_ENGLAND De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 30487643 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.300 Biomarker disease CTD_human In vivo loss-of-function screens identify KPNB1 as a new druggable oncogene in epithelial ovarian cancer. 28811376 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. 26333423 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies. 31564439 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019