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: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.410 None 1.000 0 0 2015 2015
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease 0.120 None 1.000 0 0 2013 2016
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0497406
Disease: Overweight
Overweight 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0426415
Disease: Large nose
Large nose 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0