KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
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: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 2 2012 2012
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 2 2012 2012
Hypotrophy of the small hand muscles
disease Disease or Syndrome 2 0.100 None 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose
phenotype Finding 3 2 0.100 None 0
CUI: C4025161
Disease: Positional foot deformity
Positional foot deformity
disease Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
Chromosome 17q21.31 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 17 0.750 None 0.900 10 17 2009 2018
CUI: C4021029
Disease: Conspicuously happy disposition
Conspicuously happy disposition
phenotype Finding 4 0.100 None 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation
phenotype Finding 5 2 0.100 None 0
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 2 2012 2012
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 2 2012 2012
CUI: C1857055
Disease: Anteverted ears
Anteverted ears
phenotype Finding 7 0.100 None 0
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 1 0.300 None 1.000 2 2012 2012
Leukemia, Megakaryoblastic, of Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 9 1 0.300 None 1.000 1 2013 2013
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 0.010 None 1.000 1 2014 2014
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture
disease Finding 15 1 0.100 None 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 2 2012 2012
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads
phenotype Finding 16 8 0.100 None 0
CUI: C1857632
Disease: Narrow palm
Narrow palm
phenotype Finding 17 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger
phenotype Finding 20 5 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 28 82 0.010 None 1.000 1 2015 2015
CUI: C0029489
Disease: Other alopecia
Other alopecia
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1
disease Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016