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: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 4 1 2005 2017
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		disease 0.100 None 1.000 1 7 2015 2015
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C4023771
Disease: Anterior pituitary dysgenesis
Anterior pituitary dysgenesis 		disease 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype 0.100 None 0 1
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease 0.100 None 0 1