rs397507531, PTPN11

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.700 CausalMutation CLINVAR
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 CausalMutation CLINVAR
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
0.700 CausalMutation CLINVAR
Amblyopia
CUI: C0002418
Disease: Amblyopia
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
0.700 CausalMutation CLINVAR
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
0.700 CausalMutation CLINVAR
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
0.700 CausalMutation CLINVAR
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Hyperopia
CUI: C0020490
Disease: Hyperopia
0.700 CausalMutation CLINVAR
Late tooth eruption
CUI: C0239174
Disease: Late tooth eruption
0.700 CausalMutation CLINVAR
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR A clinical study of Noonan syndrome. 1543375 1992
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR A clinical study of Noonan syndrome. 1543375 1992
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Noonan syndrome: the changing phenotype. 4025385 1985
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Noonan syndrome: the changing phenotype. 4025385 1985
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970 1968
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970 1968
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. 8530013 1995
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. 8530013 1995
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). 9222968 1997