FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
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: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GermlineCausalMutation disease ORPHANET
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GermlineCausalMutation disease ORPHANET
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease CTD_human
Malignant neoplasm of urinary bladder
0.800 CausalMutation disease CGI
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 GermlineCausalMutation disease ORPHANET
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 Biomarker disease CTD_human
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 Biomarker disease CTD_human
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GermlineCausalMutation disease ORPHANET
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.790 Biomarker disease CTD_human
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.790 GermlineCausalMutation disease ORPHANET
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.770 GermlineCausalMutation disease ORPHANET
Lacrimoauriculodentodigital syndrome
0.720 Biomarker disease CTD_human
Lacrimoauriculodentodigital syndrome
0.720 GermlineCausalMutation disease ORPHANET
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 CausalMutation disease CGI
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.700 GermlineCausalMutation disease ORPHANET
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.700 Biomarker disease CTD_human
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.700 GermlineCausalMutation disease ORPHANET
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.700 Biomarker disease CTD_human
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 Biomarker disease CTD_human
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.640 GeneticVariation disease UNIPROT
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.640 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 CausalMutation group CGI
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.540 Biomarker disease CTD_human
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.530 Biomarker disease CTD_human