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
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 CausalMutation disease CGI
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 CausalMutation disease CLINVAR
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		0.690 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.660 CausalMutation disease CLINVAR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.650 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.600 CausalMutation disease CGI
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.510 CausalMutation disease CGI
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.500 CausalMutation disease CLINVAR
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.500 CausalMutation disease CGI
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.500 CausalMutation disease CGI
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.460 CausalMutation disease CLINVAR
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.460 CausalMutation disease CGI
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.410 CausalMutation disease CLINVAR
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.340 CausalMutation disease CGI
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		0.300 CausalMutation disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 CausalMutation disease CGI
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		0.300 CausalMutation disease CGI