KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0 1
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0 2
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype Finding 91 19 0.100 None 0 1
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 55 3 0.100 None 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0 1
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0