FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormal form of the vertebral bodies
0.100 Biomarker phenotype HPO
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
0.100 Biomarker disease HPO
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
0.100 Biomarker disease HPO
Abnormality of cardiovascular system morphology
0.100 Biomarker disease HPO
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
0.100 Biomarker disease HPO
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
0.100 Biomarker disease HPO
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
Abnormality of pelvic girdle bone morphology
0.100 Biomarker disease HPO
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
0.100 Biomarker disease HPO
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
0.100 Biomarker phenotype HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
0.100 Biomarker disease HPO
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker disease HPO
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
0.100 CausalMutation phenotype CLINVAR
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
0.100 Biomarker disease HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 GeneticVariation disease BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399 2017
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.100 CausalMutation phenotype CLINVAR
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
0.100 Biomarker phenotype HPO
CUI: C1405984
Disease: Absent radius
Absent radius
0.100 Biomarker disease HPO
CUI: C0846967
Disease: Acanthoma
Acanthoma
0.010 GeneticVariation disease BEFREE We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown. 28627087 2017
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. 8880573 1996
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects. 9182787 1997