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: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2014 2014
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0426415
Disease: Large nose
Large nose 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0