FASN, fatty acid synthase, 2194

N. diseases: 245; 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: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 15 0.010 None 1.000 1 2005 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.010 None 1.000 1 2019 2019
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		disease Disease or Syndrome 6 9 0.010 None 1.000 1 2019 2019
CUI: C0496836
Disease: Malignant tumor of eye
Malignant tumor of eye 		disease Neoplasms; Eye Diseases Neoplastic Process 11 0.020 None 1.000 2 2013 2015
CUI: C4022459
Disease: Decreased adipose tissue
Decreased adipose tissue 		phenotype Sign or Symptom 17 0.010 None 1.000 1 2009 2009
CUI: C0085167
Disease: Granular cell tumor
Granular cell tumor 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2007 2007
CUI: C0025205
Disease: Melanoma, Experimental
Melanoma, Experimental 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 25 0.010 None 1.000 1 2014 2014
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2016 2016
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration 		phenotype Sign or Symptom 27 1 0.010 None 1.000 1 2017 2017
CUI: C0344460
Disease: Carcinoma ex pleomorphic adenoma
Carcinoma ex pleomorphic adenoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 30 2 0.010 None 1.000 1 2019 2019
CUI: C0205825
Disease: Liposarcoma, Pleomorphic
Liposarcoma, Pleomorphic 		disease Neoplasms Neoplastic Process 33 0.300 None 1.000 1 2010 2010
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 35 0.010 None 1.000 1 2013 2013
CUI: C4524257
Disease: MSI-low
MSI-low 		disease Neoplastic Process 37 2 0.010 None 1.000 1 2007 2007
CUI: C4688007
Disease: Platinum-Resistant Ovarian Carcinoma
Platinum-Resistant Ovarian Carcinoma 		disease Neoplastic Process 41 0.010 None 1.000 1 2015 2015
CUI: C4721209
Disease: Metastatic human epidermal growth factor 2 positive carcinoma of breast
Metastatic human epidermal growth factor 2 positive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 42 0.010 None 1.000 1 2009 2009
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		disease Neoplasms Neoplastic Process 54 0.300 None 1.000 1 2010 2010
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa 		disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2019 2019
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 66 7 0.010 None 1.000 1 2013 2013
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2019 2019
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 80 21 0.010 None 1.000 1 2019 2019
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.010 None 1.000 1 2017 2017
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		disease Neoplasms Neoplastic Process 95 0.300 None 1.000 1 2010 2010
CUI: C0042341
Disease: Varicocele
Varicocele 		disease Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 99 3 0.010 None 1.000 1 2020 2020
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor 		disease Neoplasms Neoplastic Process 100 1 0.010 None 1.000 1 2016 2016
CUI: C0349530
Disease: Early gastric cancer
Early gastric cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 100 2 0.010 None 1.000 1 2017 2017