PHF21A, PHD finger protein 21A, 51317

N. diseases: 50; N. variants: 16
Disease: PEELING SKIN SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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