FGD1, FYVE, RhoGEF and PH domain containing 1, 2245

N. diseases: 131; N. variants: 15
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: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.800 definitive 0.935 31 12 1994 2017
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.010 None 1.000 1 2007 2007
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2010 2010
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0003431
Disease: Antisocial Personality Disorder
Antisocial Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 63 6 0.010 None 1.000 1 2019 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2016 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.020 None 1.000 2 2016 2017
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms 		phenotype Sign or Symptom 110 10 0.020 None 1.000 2 2018 2019
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 123 7 0.300 None 1.000 1 2005 2005
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.420 None 1.000 2 1 2005 2014
CUI: C1856871
Disease: Autosomal recessive facio-digito-genital syndrome
Autosomal recessive facio-digito-genital syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 6 1994 2007
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2009 2009
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype Finding 22 2 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2009 2009
CUI: C0574967
Disease: Cervical spine hypermobility
Cervical spine hypermobility 		phenotype Finding 1 0.100 None 0
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2000 2000
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.110 None 1.000 1 2014 2014