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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
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: 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: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype 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: 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: 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: 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: 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: C4025790
Disease: Specific learning disability
Specific learning disability 		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: 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: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0