FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone
disease Anatomical Abnormality 29 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx
disease Anatomical Abnormality 17 0.100 None 0
Partial duplication of the distal phalanx of the 3rd finger
disease Anatomical Abnormality 2 0.100 None 0
Partial duplication of the distal phalanx of the 2nd finger
disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix
disease Anatomical Abnormality 3 1 0.100 None 0
Symphalangism affecting the phalanges of the hand
disease Anatomical Abnormality 13 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
disease Anatomical Abnormality 4 0.100 None 0
Morphological abnormality of the semicircular canal
disease Anatomical Abnormality 4 2 0.100 None 0
CUI: C4023454
Disease: Metopic depression
Metopic depression
disease Anatomical Abnormality 1 0.100 None 0
Abnormal shape of the frontal region
phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly
disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone
phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4025301
Disease: Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion
disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
disease Anatomical Abnormality 13 1 0.100 None 0
Abnormal nasolacrimal system morphology
disease Anatomical Abnormality 23 0.100 None 0
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum
disease Anatomical Abnormality 1 0.100 None 0
Partial duplication of thumb phalanx
disease Anatomical Abnormality 12 1 0.100 None 0