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: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.400 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.400 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 strong 0
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.300 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.300 None 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 10 0.300 None 0 1
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 0.300 None 0
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 124 11 0.300 None 0
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.300 None 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.300 None 0
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 67 7 0.300 None 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.300 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 None 0
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		phenotype Finding 2 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.100 None 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		phenotype Finding 16 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0 1