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: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease CTD_human
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease CTD_human
Malignant neoplasm of urinary bladder
0.800 CausalMutation disease CLINVAR
Malignant neoplasm of urinary bladder
0.800 CausalMutation disease CGI
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 Biomarker disease CTD_human
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.800 Biomarker disease CTD_human
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 Biomarker disease CTD_human
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.800 Biomarker disease GENOMICS_ENGLAND
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.800 Biomarker disease CTD_human
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 Biomarker disease GENOMICS_ENGLAND
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 Biomarker disease GENOMICS_ENGLAND
Lacrimoauriculodentodigital syndrome
0.720 Biomarker disease GENOMICS_ENGLAND
Lacrimoauriculodentodigital syndrome
0.720 Biomarker disease CTD_human
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 Biomarker disease CTD_human
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 GeneticVariation disease CLINVAR
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 Biomarker disease CTD_human
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.690 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.660 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.660 GeneticVariation disease UNIPROT
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 GeneticVariation disease UNIPROT
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.650 CausalMutation disease CGI