FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
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: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
disease Disease or Syndrome 46 15 0.800 None 0.895 19 13 2002 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.020 None 1.000 2 1 2009 2020
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts
disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C0747708
Disease: Pneumothorax, recurrent
Pneumothorax, recurrent
disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm
disease Neoplastic Process 105 2 0.010 None 1.000 1 2009 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2005 2005
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma
disease Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 0
CUI: C0454642
Disease: Receptive language delay
Receptive language delay
disease Mental or Behavioral Dysfunction 9 5 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip
phenotype Finding 13 4 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
NONPAPILLARY RENAL CARCINOMA 1 LOCUS
phenotype Finding 1 0.200 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.100 None 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0