ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0027960
Disease: Nevus
Nevus 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.100 Biomarker phenotype HPO
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.100 Biomarker disease HPO