Source: ORPHANET

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: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
disease 0.750 strong 0.889 1 0 2003 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
Encephalocraniocutaneous lipomatosis
disease 0.740 None 1.000 1 0 2009 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
disease 0.730 None 1.000 1 0 2003 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease 0.640 None 0.750 1 0 2000 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease 0.600 None 0.979 2 0 2003 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
disease 0.420 None 1.000 1 0 2012 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease 0.410 None 1.000 0 0 2009 2009
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
disease 0.400 None 1.000 1 0 1999 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease 0.400 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
disease 0.300 None 1.000 1 0 2012 2012