PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 10 2007 2019
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.030 None 1.000 3 1 2016 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2017 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2013 2015
CUI: C0233472
Disease: Labile affect
Labile affect 		disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2018 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2014 2014
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 1 2019 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2013 2013
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		disease Disease or Syndrome 1 4 0.700 strong 1.000 1 4 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype Finding 39 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.030 None 1.000 3 1 2017 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		disease Cardiovascular Diseases Disease or Syndrome 57 3 0.010 None 1.000 1 2019 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2014 2014