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: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		disease 0.630 None 1.000 2 20 2015 2020
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.150 None 1.000 0 42 2016 2019
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 3 1999 2017
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 13 5 1999 2017
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 13 4 1999 2017
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 13 1 1999 2017
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 2
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype 0.100 None 0 1