FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
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.
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 2 10 0.600 None 1.000 6 9 2008 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2015 2017
CUI: C0740404
Disease: Limb defects
Limb defects
group Congenital Abnormality 67 2 0.010 None < 0.001 1 1997 1997
androgen independent prostate cancer
disease Neoplastic Process 190 5 0.010 None 1.000 1 1999 1999
Myxoinflammatory fibroblastic sarcoma
disease Neoplastic Process 8 0.010 None 1.000 1 2014 2014
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
disease Disease or Syndrome 8 2 0.010 None 1.000 1 1 2014 2014
CUI: C4551492
Disease: Micropenis
Micropenis
disease Congenital Abnormality 32 21 0.010 None 1.000 1 2014 2014
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 26 0.010 None 1.000 1 2014 2014
CUI: C4707449
Disease: Ring chromosome 3 syndrome
Ring chromosome 3 syndrome
disease Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility
phenotype Finding 50 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype Finding 44 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis
phenotype Finding 16 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development
phenotype Finding 24 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0