KRT25, keratin 25, 147183

N. diseases: 25; N. variants: 3
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: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
disease Disease or Syndrome 1 2 0.600 strong 1.000 3 2 2015 2018
CUI: C0343073
Disease: Wooly hair
Wooly hair
phenotype Skin and Connective Tissue Diseases Finding 19 0.400 None 1.000 1 2015 2015
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
Woolly Hair, Autosomal Recessive
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.310 None 1.000 1 2015 2015
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital
disease Skin and Connective Tissue Diseases Congenital Abnormality 5 0.300 None 1.000 1 2015 2015
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.110 None 1.000 1 2018 2018
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8
disease Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.100 None 1.000 1 1 2015 2015
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 20 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
phenotype Finding 35 1 0.100 None 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
phenotype Finding 24 7 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0263485
Disease: Clastothrix
Clastothrix
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
phenotype Eye Diseases Finding 13 8 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair
phenotype Finding 23 1 0.100 None 0
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2016 2016
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
disease Stomatognathic Diseases Disease or Syndrome 130 49 0.010 None 1.000 1 1 2020 2020
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.010 None 1.000 1 2016 2016
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None 1.000 1 1 2020 2020
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2018 2018