Source: HPO

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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong < 0.001 0 0 2009 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.410 limited 1.000 0 0 2016 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma
disease 0.400 0 0 2003 2003
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease 0.200 0.927 0 0 2003 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects
group 0.200 0.923 0 0 2013 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
Malignant Peripheral Nerve Sheath Tumor
disease 0.160 0.833 0 0 2008 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.130 1.000 0 0 2011 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease 0.120 1.000 0 0 2013 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
group 0.120 1.000 0 0 2013 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 1.000 0 0 2014 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.110 1.000 0 0 2011 2015
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease 0.110 1.000 0 0 2009 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.110 < 0.001 0 0 2009 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.110 1.000 0 0 2005 2005
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1862855
Disease: Sparse to absent eyelashes
Sparse to absent eyelashes
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1862425
Disease: Prominent globes
Prominent globes
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype 0.100 0 0 2015 2015
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple
disease 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1861873
Disease: Multiple plantar creases
Multiple plantar creases
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease 0.100 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype 0.100 0 0