FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 108 8 0.100 None 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		phenotype Finding 7 0.100 None 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C0085602
Disease: Polydipsia
Polydipsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 1 0.100 None 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 7 0.100 None 0
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 13 1 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 3 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 50 1 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0
CUI: C0029429
Disease: Osteochondrosis
Osteochondrosis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype Eye Diseases Finding 20 4 0.100 None 0