rs1135401778, BPTF

N. diseases: 20
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 aggressive, impulsive or violent behavior
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
3 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Abnormality of mouth size
CUI: C4023408
Disease: Abnormality of mouth size
2 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Abnormality of the periventricular white matter
CUI: C2673431
Disease: Abnormality of the periventricular white matter
7 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
9 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Cataract
CUI: C0086543
Disease: Cataract
124 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Erythema
CUI: C0041834
Disease: Erythema
8 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Grammar-specific speech disorder
CUI: C4024956
Disease: Grammar-specific speech disorder
1 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Long nose
CUI: C1839798
Disease: Long nose
2 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Persistent pupillary membranes
CUI: C0344541
Disease: Persistent pupillary membranes
2 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Sandal gap
CUI: C1840069
Disease: Sandal gap
6 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
5 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 0