CST6, cystatin E/M, 1474

N. diseases: 72; N. variants: 1
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: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 15 0.200 None 1.000 3 1997 2004
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 2019 2019
CUI: C0036211
Disease: Sarcoma 180
Sarcoma 180 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 20 1 0.010 None 1.000 1 1990 1990
CUI: C2987516
Disease: Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7 		disease Neoplasms Neoplastic Process 25 0.010 None 1.000 1 2016 2016
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 27 4 0.010 None 1.000 1 2019 2019
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 31 11 0.010 None < 0.001 1 2012 2012
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.010 None < 0.001 1 2012 2012
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2008 2008
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 2009 2009
CUI: C0005741
Disease: Blepharitis
Blepharitis 		disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.010 None 1.000 1 2019 2019
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.220 None 1.000 4 1997 2004
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None < 0.001 1 2012 2012
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		disease Neoplasms Neoplastic Process 117 18 0.010 None 1.000 1 2016 2016
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		disease Neoplasms Neoplastic Process 151 1 0.010 None 1.000 1 2009 2009
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None 1.000 1 2003 2003
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.110 None 1.000 1 2019 2019
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 162 5 0.020 None 1.000 2 2006 2010
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.010 None 1.000 1 2010 2010
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.010 None < 0.001 1 2012 2012