KRT85, keratin 85, 3891

N. diseases: 14; N. variants: 2
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.
Ectodermal Dysplasia, Pure Hair-Nail Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.700 strong 1.000 2 2 2006 2010
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 0.110 None 1.000 1 2010 2010
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: C1843005
Disease: Absent eyelashes
Absent eyelashes
phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C1393669
Disease: Congenital onychodystrophy
Congenital onychodystrophy
disease Congenital Abnormality 1 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0263491
Disease: Pili Torti
Pili Torti
phenotype Skin and Connective Tissue Diseases Finding 12 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 45 1 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: C0085661
Disease: Onycholysis
Onycholysis
disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis
disease Congenital Abnormality 3 2 0.100 None 0
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 0.020 None 1.000 2 2006 2010
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.010 None 1.000 1 2010 2010
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.010 None 1.000 1 2010 2010