Source: INFERRED

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: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease 1.000 definitive 1.000 0 3 2012 2020
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 0 0 2012 2019
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group 0.130 None 1.000 0 1 2012 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome
disease 0.120 None 1.000 0 1 2019 2020
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease 0.110 None 1.000 0 2 2019 2019
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.110 None 1.000 0 3 2014 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1839546
Disease: Microretrognathia
Microretrognathia
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
Short distal phalanx of the 5th finger
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype 0.100 None 0 2
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0