CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs68034047
rs68034047 		11 119260224 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTT delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs397517076
rs397517076 		0.925 0.160 11 119278165 splice acceptor variant G/C;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 7 2010 2017
dbSNP: rs397517076
rs397517076 		0.925 0.160 11 119278165 splice acceptor variant G/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2010 2017
dbSNP: rs397517076
rs397517076 		0.925 0.160 11 119278165 splice acceptor variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 6 2009 2015
dbSNP: rs727504426
rs727504426 		0.882 0.320 11 119278508 splice acceptor variant A/G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 4 2009 2012
dbSNP: rs727504426
rs727504426 		0.882 0.320 11 119278508 splice acceptor variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2009 2012
dbSNP: rs727504504
rs727504504 		1.000 0.160 11 119278169 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2009 2010
dbSNP: rs1047417
rs1047417 		1.000 0.040 11 119301826 3 prime UTR variant A/G snv 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11217184
rs11217184 		1.000 0.040 11 119208283 intron variant A/G snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11217191
rs11217191 		11 119223937 intron variant G/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12786104
rs12786104 		1.000 0.040 11 119226075 intron variant T/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1301481068
rs1301481068 		1.000 0.080 11 119232532 missense variant C/T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1328906812
rs1328906812 		1.000 0.040 11 119278530 missense variant T/G snv
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2276083
rs2276083 		1.000 0.040 11 119274564 intron variant A/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2511856
rs2511856 		1.000 0.040 11 119273438 intron variant G/T snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017