FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
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.
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
disease Finding 40 2 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
disease Anatomical Abnormality 1 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
Abnormality of pelvic girdle bone morphology
disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
phenotype Finding 12 4 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
disease Anatomical Abnormality 42 0.100 None 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype Finding 21 2 0.100 None 0 1
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
disease Anatomical Abnormality 97 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 1 2017 2017
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
phenotype Finding 4 0.100 None 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.100 None 0 1
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
phenotype Finding 3 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0
CUI: C0846967
Disease: Acanthoma
Acanthoma
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.200 None 1.000 24 4 1996 2019
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 1.000 definitive 0.974 152 12 1994 2020