Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. 20622853

2010
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. 19843542

2010
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Autism-associated familial microdeletion of Xp11.22. 18498374

2008
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. 17661819

2007
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. 17594395

2007
dbSNP: rs1557099144
rs1557099144
PHF8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		GC 0.700 CausalMutation CLINVAR Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. 16199551

2005