HEPHL1, hephaestin like 1, 341208

N. diseases: 21; N. variants: 0
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.
Pili torti developmental delay neurological abnormalities
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 1 2019 2019
CUI: C0263485
Disease: Clastothrix
Clastothrix
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.110 None 1.000 1 2019 2019
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
phenotype Finding 31 6 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle
phenotype Finding 2 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails
phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C4025296
Disease: Brittle scalp hair
Brittle scalp hair
phenotype Finding 2 0.100 None 0
CUI: C0332606
Disease: Elfin facies
Elfin facies
phenotype Sign or Symptom 11 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.100 None 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
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: C0263491
Disease: Pili Torti
Pili Torti
phenotype Skin and Connective Tissue Diseases Finding 12 0.100 None 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0018500
Disease: Hair Diseases
Hair Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2019 2019