S100A1, S100 calcium binding protein A1, 6271

N. diseases: 396; 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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.040 None 0.750 4 2014 2019
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 1995 1995
CUI: C0939964
Disease: Rectal pouch
Rectal pouch 		disease Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2019 2019
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2018 2018
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.020 None 0.500 2 2015 2017
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.020 None 0.500 2 2004 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 8 0.020 None 0.500 2 2015 2017
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.010 None 1.000 1 2018 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2020 2020
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None < 0.001 1 2001 2001
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2020 2020
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 1990 1990
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.100 None 1.000 15 2004 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 1.000 15 2004 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.070 None 1.000 7 1988 2001
CUI: C0019625
Disease: Sinus histiocytosis
Sinus histiocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.070 None 0.857 7 2014 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.070 None 1.000 7 1988 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.060 None 1.000 6 1996 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.050 None 1.000 5 2005 2019
CUI: C1832097
Disease: EPIDERMAL DIFFERENTIATION COMPLEX
EPIDERMAL DIFFERENTIATION COMPLEX 		disease Disease or Syndrome 38 3 0.050 None 1.000 5 2003 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.040 None 1.000 4 2002 2019
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.040 None 1.000 4 2004 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.040 None 1.000 4 1996 2007
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 1.000 3 2010 2019