KRT6A, keratin 6A, 3853

N. diseases: 68; N. variants: 23
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.
Pachyonychia Congenita, Jadassohn Lewandowsky Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 19 0.530 strong 1.000 4 1 1999 2013
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 18 7 0.400 None 0.909 22 2 2003 2020
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.400 None 1.000 12 20 1995 2013
Pachyonychia Congenita, Type 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 13 0.300 None 0
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 144 6 0.120 None 1.000 2 2012 2020
CUI: C0040412
Disease: Fissured tongue
Fissured tongue
disease Stomatognathic Diseases Disease or Syndrome 36 1 0.110 None 1.000 1 2013 2013
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.110 None 1.000 1 2019 2019
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.110 None 1.000 1 2018 2018
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0424489
Disease: Chapping of lips
Chapping of lips
phenotype Stomatognathic Diseases Finding 1 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Finding 75 10 0.100 None 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis
phenotype Finding 11 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 67 18 0.100 None 0
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque
phenotype Finding 19 107 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C4024679
Disease: Onychogryposis of toenails
Onychogryposis of toenails
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst
phenotype Neoplasms Anatomical Abnormality 38 0.100 None 0
CUI: C4023710
Disease: Palmar hyperkeratosis
Palmar hyperkeratosis
disease Disease or Syndrome 6 0.100 None 0
CUI: C0017574
Disease: Gingivitis
Gingivitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0