KRT83, keratin 83, 3889

N. diseases: 29; N. variants: 11
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: C0546966
Disease: Monilethrix
Monilethrix
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 5 12 0.720 None 1.000 3 2 2005 2015
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.310 None 1.000 1 2017 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 9 2017 2017
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
phenotype Finding 35 1 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1862862
Disease: Patchy alopecia
Patchy alopecia
phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
phenotype Finding 39 0.100 None 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4024867
Disease: Perifollicular hyperkeratosis
Perifollicular hyperkeratosis
disease Disease or Syndrome 4 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 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: C0334013
Disease: Phrynoderma
Phrynoderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.100 None 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
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: C0241148
Disease: Cutaneous plaque
Cutaneous plaque
phenotype Finding 19 107 0.100 None 0