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: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		disease 0.800 None 1.000 3 10 2011 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		disease 0.790 strong 1.000 2 13 2011 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.140 None 1.000 0 0 2013 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease 0.130 None 1.000 1 2 2014 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 1 1 2016 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 8 1 2011 2018
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 2
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1843108
Disease: Short palm
Short palm 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 1
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 0 0