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: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		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
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4025324
Disease: Abnormality of the cheek
Abnormality of the cheek 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease 0.100 None 0 0
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 0 0 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 0
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 0 0 2014 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 0
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 0 0 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype 0.100 None 0 0