Source: INFERRED

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: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 1 3 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.410 strong 1.000 0 0 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype 0.100 None 1.000 1 2 2018 2018
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0476287
Disease: Breath-holding spell
Breath-holding spell 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 1 2 2012 2012
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		disease 0.100 None 1.000 1 1 2019 2019