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: 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: C0574967
Disease: Cervical spine hypermobility
Cervical spine hypermobility 		phenotype Finding 1 0.100 None 0
CUI: C1844571
Disease: Increased upper to lower segment ratio
Increased upper to lower segment ratio 		phenotype Finding 1 0.100 None 0
CUI: C1844572
Disease: Curved linear dimple below the lower lip
Curved linear dimple below the lower lip 		phenotype Finding 1 0.100 None 0
CUI: C3275558
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0685628
Disease: Full supernumerary rib
Full supernumerary rib 		disease Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C0744673
Disease: heart inflammation
heart inflammation 		disease Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.010 None 1.000 1 2007 2007
CUI: C1853486
Disease: Widow's peak
Widow's peak 		disease Finding 9 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2000 2000
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 18 0.010 None < 0.001 1 2000 2000
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 1 0.300 None 1.000 1 2002 2002
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease Congenital Abnormality 18 3 0.100 None 0
CUI: C1844573
Disease: Large earlobe
Large earlobe 		phenotype Finding 18 2 0.100 None 0
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		phenotype Finding 18 5 0.100 None 0
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 0
CUI: C1321905
Disease: Minimal Brain Dysfunction
Minimal Brain Dysfunction 		disease Mental Disorders Mental or Behavioral Dysfunction 22 0.300 None 1.000 1 2005 2005
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype Finding 22 2 0.100 None 0
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease Musculoskeletal Diseases Congenital Abnormality 24 0.100 None 0
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		phenotype Finding 25 3 0.100 None 0
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0