KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
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: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.020 None 1.000 2 2017 2017
CUI: C0263367
Disease: Köbner phenomenon
Köbner phenomenon
disease Disease or Syndrome 9 0.010 None 1.000 1 2004 2004
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2016 2016
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
disease Disease or Syndrome 130 5 0.010 None 1.000 1 2006 2006
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast
disease Neoplastic Process 15 2 0.010 None 1.000 1 2007 2007
CUI: C1334266
Disease: Intraurothelial Neoplasia
Intraurothelial Neoplasia
disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
medullary carcinoma with lymphoid stroma of breast
disease Neoplastic Process 10 0.010 None 1.000 1 2007 2007
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.010 None 1.000 1 2016 2016
CUI: C3160889
Disease: Node-negative breast cancer
Node-negative breast cancer
disease Neoplastic Process 54 2 0.010 None 1.000 1 2010 2010
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
disease Disease or Syndrome 2 9 0.400 None 1.000 1 3 2002 2002
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
disease Neoplastic Process 118 1 0.010 None 1.000 1 2017 2017
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
disease Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017
Lung Non-Keratinizing Squamous Cell Carcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2006 2006
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters
phenotype Sign or Symptom 12 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
phenotype Finding 20 1 0.100 None 0
Mottled pigmentation of the trunk and proximal extremities
phenotype Finding 1 0.100 None 0
Discrete 2 to 5-mm hyper- and hypopigmented macules
phenotype Finding 1 0.100 None 0
CUI: C1855106
Disease: Neonatal onset
Neonatal onset
phenotype Finding 27 0.100 None 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance
phenotype Finding 40 1 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0