Source: HPO

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: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2016 2016
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0027960
Disease: Nevus
Nevus 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0