ADNP, activity dependent neuroprotector homeobox, 23394
N. diseases: 171; N. variants: 23
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 20 | 50892395 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 |