PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 CausalMutation disease CLINVAR
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 GeneticVariation disease CLINVAR
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		0.100 Biomarker disease HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex 		0.100 Biomarker disease HPO
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		0.100 Biomarker disease HPO
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.100 CausalMutation phenotype CLINVAR
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.100 CausalMutation phenotype CLINVAR
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		0.100 Biomarker phenotype HPO
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 Biomarker phenotype HPO
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		0.100 Biomarker disease HPO