CDC42EP1, CDC42 effector protein 1, 11135

N. diseases: 17; 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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.090 None 0.889 9 2011 2019
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.020 None 1.000 2 2018 2019
CUI: C2827362
Disease: Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 		disease Neoplastic Process 22 0.020 None 1.000 2 2006 2008
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.020 None 1.000 2 2018 2019
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 67 11 0.010 None 1.000 1 2017 2017
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2017 2017
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 18 0.010 None 1.000 1 2009 2009
CUI: C1292753
Disease: Primary Effusion Lymphoma
Primary Effusion Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 169 0.010 None 1.000 1 2009 2009
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None 1.000 1 2017 2017
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		group Infections; Respiratory Tract Diseases Disease or Syndrome 63 7 0.010 None 1.000 1 2020 2020
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2017 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2017 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2009 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2010 2010
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2011 2011
CUI: C3899281
Disease: Early Inflammatory Arthritis
Early Inflammatory Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2019 2019