FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 665; N. variants: 90
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: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Congenital Abnormality 41 3 0.400 strong 0
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 0
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
disease Neoplastic Process 18 0.300 0
Neoplasm of uncertain or unknown behavior of stomach
disease Neoplastic Process 17 0.300 0
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease Neoplastic Process 17 0.300 0
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 469 41 0.300 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 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 0
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
disease Neoplastic Process 113 6 0.300 0
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
disease Neoplastic Process 17 0.300 0
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 10 0.200 0
CUI: C1840087
Disease: Radial ray hypoplasia
Radial ray hypoplasia
phenotype Finding 27 0.100 0
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
disease Disease or Syndrome 19 0.100 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 32 0.100 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C1849227
Disease: Cleft of chin
Cleft of chin
phenotype Finding 2 0.100 0
CUI: C1849314
Disease: absence of radius and ulna
absence of radius and ulna
phenotype Finding 18 0.100 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth
phenotype Finding 12 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1850161
Disease: Widened metatarsal shaft
Widened metatarsal shaft
phenotype Finding 6 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1837532
Disease: Fused labia minora
Fused labia minora
phenotype Finding 5 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0