Source: MGD

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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.987 1 0 2001 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 1.000 definitive 0.982 0 0 2001 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 1.000 None 0.983 0 0 2000 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.910 None 1.000 1 0 2001 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome
disease 0.500 None 1.000 1 0 2004 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease 0.500 None 1.000 1 0 2004 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.400 None 1.000 0 0 2002 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
Congenital malformation syndromes associated with short stature
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
Cardiomyopathy, Hypertrophic, Familial
disease 0.200 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group 0.200 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
disease 0.200 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.200 None 0 0