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: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		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: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		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: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		disease 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: C4023801
Disease: Fibular bowing
Fibular bowing 		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: C4023424
Disease: Prominent digit pad
Prominent digit pad 		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: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		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: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		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: C1868571
Disease: Highly arched eyebrow
Highly arched 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
CUI: C1867131
Disease: Broad hallux
Broad hallux 		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: C1861324
Disease: Short philtrum
Short 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: C1860819
Disease: Metopic synostosis
Metopic synostosis 		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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		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: C0456070
Disease: Growth delay
Growth 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: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		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: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		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: C0003467
Disease: Anxiety
Anxiety 		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: C0152441
Disease: Madelung Deformity
Madelung Deformity 		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: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		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: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		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: C0038379
Disease: Strabismus
Strabismus 		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: C0034012
Disease: Delayed Puberty
Delayed Puberty 		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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		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: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease 0.100 None 1.000 1 1 2016 2016