Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.120 None 1.000 0 0 2012 2019
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.120 None 1.000 0 0 2011 2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0497406
Disease: Overweight
Overweight 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0