Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.100 CausalMutation disease CLINVAR X-linked hypophosphatemic rickets: case report. 24684036 2015
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of proneness to anger. 24489884 2014
CUI: C0002957
Disease: Anger
Anger 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of proneness to anger. 24489884 2014
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.100 CausalMutation disease CLINVAR Structure and function of disease-causing missense mutations in the PHEX gene. 12727977 2003
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.100 CausalMutation disease CLINVAR Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. 11468271 2001
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.100 CausalMutation disease CLINVAR Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930 1997
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		0.100 GeneticVariation disease CLINVAR
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.100 GeneticVariation disease CLINVAR
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		0.100 GeneticVariation phenotype CLINVAR
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.100 GeneticVariation disease CLINVAR
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		0.100 GeneticVariation disease CLINVAR
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Finally, targeted disruption of PTCHD1-AS exon 3 recapitulated diminished miniature excitatory postsynaptic current frequency, supporting a role for the long noncoding RNA in the etiology of ASD. 31540669 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE We also compiled novel and known genetic variants of the PTCHD1 locus to explore the roles of PTCHD1 and PTCHD1-AS in genetic risk for ASD and other neurodevelopmental disorders. 31540669 2020