Source: CLINVAR

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: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		disease 0.600 strong 1.000 0 17 2012 2018
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype 0.100 None 0 3
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 6
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 4
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype 0.100 None 0 3
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 5
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype 0.100 None 0 4
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.100 None 0 10