Source: CLINVAR

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: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME
disease 0.760 None 1.000 1 17 2013 2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 0.667 0 1 2013 2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 9 3 2011 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.110 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.110 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 9 3 2011 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 1 2011 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1839816
Disease: Long neck
Long neck
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
Progressive sensorineural hearing impairment
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
Abnormality of nasopharyngeal adenoids
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery
phenotype 0.100 None 1.000 1 1 2016 2016