CSTA, cystatin A, 1475

N. diseases: 97; N. variants: 6
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: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		disease Disease or Syndrome 1 4 0.410 None 1.000 3 4 2011 2016
CUI: C1842797
Disease: Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.500 moderate 0
CUI: C4021572
Disease: Excessive wrinkling of palmar skin
Excessive wrinkling of palmar skin 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 1 0.340 None 1.000 4 2011 2016
CUI: C1853354
Disease: Peeling skin syndrome, acral type
Peeling skin syndrome, acral type 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 7 0.310 None 1.000 1 2016 2016
CUI: C0024959
Disease: Maxillary Sinusitis
Maxillary Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C1843359
Disease: Orthokeratosis
Orthokeratosis 		phenotype Skin and Connective Tissue Diseases Finding 10 0.100 None 0
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2010 2010
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2010 2010
CUI: C0023653
Disease: Lichenification
Lichenification 		phenotype Skin and Connective Tissue Diseases Pathologic Function 12 0.100 None 0
CUI: C0023654
Disease: Lichenification and lichen simplex chronicus
Lichenification and lichen simplex chronicus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0428302
Disease: Calcium level result
Calcium level result 		phenotype Laboratory or Test Result 14 51 0.100 None 1.000 1 1 2010 2010
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2019 2019
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		phenotype Laboratory Procedure 23 71 0.100 None 1.000 1 1 2010 2010
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C0042344
Disease: Varicose Ulcer
Varicose Ulcer 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2010 2010
CUI: C1334015
Disease: High Grade Intraepithelial Neoplasia
High Grade Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 38 0.010 None 1.000 1 2014 2014
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0815107
Disease: psychological distress
psychological distress 		disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2019 2019
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 90 2 0.100 None 0