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: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		disease 0.770 strong 1.000 2 16 2014 2018
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.500 None 1.000 0 1 2014 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 11 3 2001 2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 11 5 2001 2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 11 1 2001 2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 11 1 2001 2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1834042
Disease: Hypoplasia of facial musculature
Hypoplasia of facial musculature 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1839707
Disease: AUTISM, SEVERE
AUTISM, SEVERE 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0014877
Disease: Esotropia
Esotropia 		disease 0.100 None 0 1