Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.966 19 0 1994 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease 1.000 1.000 18 0 1996 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
disease 0.800 0.968 21 0 1993 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease 0.800 0.927 21 0 1973 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
Malignant neoplasm of urinary bladder
disease 0.800 0.920 8 0 1996 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
disease 0.790 0.889 8 0 1993 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
disease 0.770 1.000 2 0 1996 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
Lacrimoauriculodentodigital syndrome
disease 0.720 1.000 1 0 2006 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease 0.700 0.958 14 0 1995 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
disease 0.700 2 0 2006 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease 0.680 1.000 22 0 1994 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease 0.640 1.000 1 0 2013 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease 0.500 strong 0.944 27 0 1995 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease 0.500 1.000 11 0 1995 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease 0.500 0.926 3 0 2001 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease 0.460 0.833 3 0 1996 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 1987 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.420 1.000 0 0 1998 2002
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.410 1.000 18 0 1996 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.410 1.000 0 0 2002 2002
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma
disease 0.400 6 0 1995 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0 1994 1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease 0.400 strong 0 0 2001 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease 0.200 0.929 1 0 1997 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.200 1.000 1 0 1999 2018