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: rs6589723
rs6589723 		1.000 0.040 11 119237017 intron variant A/G snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs7108857
rs7108857 		11 119206293 upstream gene variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7113047
rs7113047 		1.000 0.040 11 119237402 intron variant A/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs387906664
rs387906664 		1.000 11 119278220 missense variant T/C;G snv
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs387906665
rs387906665 		1.000 11 119278256 missense variant T/A;C snv
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs387906666
rs387906666 		0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs387906666
rs387906666 		0.827 0.080 11 119278182 missense variant A/C;G snv
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: rs397507489
rs397507489 		1.000 11 119232558 stop gained T/C;G snv 4.0E-06
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: 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: rs727504426
rs727504426 		0.882 0.320 11 119278508 splice acceptor variant A/G snv
CUI: C0346180
Disease: Malignant Ovarian Germ Cell Neoplasm
Malignant Ovarian Germ Cell Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs727504640
rs727504640 		1.000 11 119285379 missense variant G/A;T snv 1.2E-05; 8.0E-06
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