rs1057518345, ADNP

N. diseases: 25
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal trachea morphology
CUI: C4025678
Disease: Abnormal trachea morphology
1 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Accessory kidney
CUI: C0266298
Disease: Accessory kidney
1 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
16 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Congenital ear anomaly NOS (disorder)
5 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 1.000 11 2001 2017
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Hypoplasia of facial musculature
CUI: C1834042
Disease: Hypoplasia of facial musculature
1 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
Stricture of anus
CUI: C0262374
Disease: Stricture of anus
1 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0