rs1557781252, GATAD2B

N. diseases: 33
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 delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Anisocoria
CUI: C0003079
Disease: Anisocoria
5 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Chronic diarrhea
CUI: C0401151
Disease: Chronic diarrhea
9 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
15 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Monocular strabismus
CUI: C4023678
Disease: Monocular strabismus
2 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0