KRT74, keratin 74, 121391

N. diseases: 31; N. variants: 4
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: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		disease Skin and Connective Tissue Diseases Congenital Abnormality 5 0.300 None 1.000 2 2010 2011
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype Skin and Connective Tissue Diseases Finding 19 0.400 None 1.000 2 2010 2011
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.010 None 1.000 1 2014 2014
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2011 2011
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2011 2011
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2014 2014
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		phenotype Finding 20 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		phenotype Finding 12 1 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails 		phenotype Finding 27 0.100 None 0
CUI: C4024880
Disease: Hair-nail ectodermal dysplasia
Hair-nail ectodermal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype Finding 18 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.400 None 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		phenotype Eye Diseases Finding 13 8 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: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 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: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0