G2Cdb::Gene report
- Gene id
- G00001453
- Gene symbol
- PTPN11 (HGNC)
- Species
- Homo sapiens
- Description
- protein tyrosine phosphatase, non-receptor type 11
- Orthologue
- G00000204 (Mus musculus)
Databases (7)
Synonyms (5)
- BPTP3
- PTP2C
- SH-PTP2
- SHP-2
- SHP2
Diseases (25)
| Disease | Nervous effect | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| D00000305: Noonan syndrome | N | Y | (11704759) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (11992261) | Microinsertion (MI) | Y |
| D00000233: Pulmonary valve stenosis | N | Y | (11992261) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (12058348) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (12161469) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (12161596) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (12325025) | Microinsertion (MI) | Y |
| D00000233: Pulmonary valve stenosis | N | Y | (12325025) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (12529711) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (12717436) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (12717436) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (12717436) | Trinucleotide substitution (TriNS) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (12717436) | Single nucleotide polymorphism (SNP) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (12717436) | Microinsertion (MI) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (12717436) | Trinucleotide substitution (TriNS) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (12717436) | Single nucleotide polymorphism (SNP) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (12717436) | Microinsertion (MI) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (12717436) | Trinucleotide substitution (TriNS) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (12717436) | Single nucleotide polymorphism (SNP) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (12717436) | Microinsertion (MI) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (12717436) | Trinucleotide substitution (TriNS) | Y |
| D00000304: Leopard syndrome | N | Y | (14634749) | Single nucleotide polymorphism (SNP) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (14644997) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (14961557) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (14974085) | Microinsertion (MI) | Y |
| D00000089: Childhood acute lymphoblastic leukaemia | N | Y | (14982869) | Microinsertion (MI) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (14982869) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (14991917) | Single nucleotide polymorphism (SNP) | Y |
| D00000235: Hypertrophic cardiomyopathy | N | Y | (14991917) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (15001945) | Single nucleotide polymorphism (SNP) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (15009076) | Unknown (?) | N |
| D00000093: Acute myeloid leukaemia | N | Y | (15009076) | Unknown (?) | N |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (15085150) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (15211660) | Deletion (D) | Y |
| D00000278: Hydrops fetalis | N | Y | (15211660) | Deletion (D) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (15211660) | Deletion (D) | Y |
| D00000305: Noonan syndrome | N | Y | (15240615) | Deletion (D) | Y |
| D00000305: Noonan syndrome | N | Y | (15240615) | Microinsertion (MI) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (15282682) | No mutation found (N) | N |
| D00000093: Acute myeloid leukaemia | N | Y | (15282682) | No mutation found (N) | N |
| D00000305: Noonan syndrome | N | Y | (15384080) | Microinsertion (MI) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (15385933) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (15389709) | Microinsertion (MI) | Y |
| D00000307: Noonan-like/multiple giant cell lesion syndrome | N | Y | (15470362) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (15520399) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (15539800) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (15539800) | Microinsertion (MI) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (15539800) | Microinsertion (MI) | Y |
| D00000235: Hypertrophic cardiomyopathy | N | Y | (15578621) | Polymorphism (P) | N |
| D00000042: Breast cancer | N | Y | (15604238) | Microinsertion (MI) | Y |
| D00000028: Lung cancer | N | Y | (15604238) | Microinsertion (MI) | Y |
| D00000018: Gastric cancer | N | Y | (15604238) | Microinsertion (MI) | Y |
| D00000066: Neuroblastoma | Y | Y | (15604238) | Microinsertion (MI) | Y |
| D00000092: Acute myelogenous leukaemia | N | Y | (15604238) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (15690106) | Microinsertion (MI) | ? |
| D00000117: Myelodysplastic syndrome | N | Y | (15725481) | Unknown (?) | ? |
| D00000096: Chronic myelomonocytic leukaemia | N | Y | (15725481) | Unknown (?) | ? |
| D00000093: Acute myeloid leukaemia | N | Y | (15749679) | Unknown (?) | ? |
| D00000093: Acute myeloid leukaemia | N | Y | (15842656) | Unknown (?) | Y |
| D00000305: Noonan syndrome | N | Y | (15886577) | Unknown (?) | Y |
| D00000304: Leopard syndrome | N | Y | (15886577) | Unknown (?) | Y |
| D00000305: Noonan syndrome | N | Y | (15889278) | Microinsertion (MI) | Y |
| D00000235: Hypertrophic cardiomyopathy | N | Y | (15889278) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (15928039) | Microinsertion (MI) | Y |
| D00000119: Myeloproliferative disease | N | Y | (15928039) | Microinsertion (MI) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (15928039) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (15929108) | Unknown (?) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (15929108) | Unknown (?) | Y |
| D00000285: Atrioventricular septal defect | N | Y | (15940693) | Microinsertion (MI) | ? |
| D00000286: Coarctation of the aorta | N | Y | (15940693) | Microinsertion (MI) | ? |
| D00000306: Noonan syndrome with growth hormone resistance | N | Y | (15985475) | Microinsertion (MI) | Y |
| D00000241: Cherubism | N | Y | (15996221) | Unknown (?) | Y |
| D00000244: Gastric atrophy | N | Y | (16032704) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (16078230) | Duplication (Du) | Y |
| D00000102: Paediatric acute myeloid leukaemia | N | Y | (16115145) | Unknown (?) | ? |
| D00000304: Leopard syndrome | N | Y | (16172598) | Microinsertion (MI) | Y |
| D00000099: Juvenile myelomonocytic leukaemia | N | Y | (16188759) | Unknown (?) | Y |
| D00000305: Noonan syndrome | N | Y | (16188759) | Unknown (?) | Y |
| D00000235: Hypertrophic cardiomyopathy | N | Y | (16488201) | No mutation found (N) | N |
| D00000305: Noonan syndrome | N | Y | (16498234) | Microinsertion (MI) | Y |
| D00000066: Neuroblastoma | Y | Y | (16518851) | Microinsertion (MI) | N |
| D00000040: Rhabdomyosarcoma | N | Y | (16518851) | Microinsertion (MI) | Y |
| D00000089: Childhood acute lymphoblastic leukaemia | N | Y | (16533526) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (16679933) | Microinsertion (MI) | Y |
| D00000304: Leopard syndrome | N | Y | (16733669) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (16804314) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (17020470) | Microinsertion (MI) | Y |
| D00000305: Noonan syndrome | N | Y | (17052965) | Single nucleotide polymorphism (SNP) | Y |
| D00000305: Noonan syndrome | N | Y | (17184563) | Unknown (?) | Y |
| D00000313: Aortic valvar stenosis | N | Y | (17184563) | Unknown (?) | Y |
| D00000244: Gastric atrophy | N | Y | (17235629) | Single nucleotide polymorphism (SNP) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (17330262) | Deletion (D) | Y |
| D00000093: Acute myeloid leukaemia | N | Y | (17330262) | Translocation (T) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (17339262) | Deletion (D) | Y |
| D00000117: Myelodysplastic syndrome | N | Y | (17339262) | Translocation (T) | Y |
| D00000305: Noonan syndrome | N | Y | (17339163) | Microinsertion (MI) | Y |
References
Literature (398)
Pubmed - human_disease
Retrieving references...
Pubmed - other
Retrieving references...
Gene lists (7)
| Gene List | Source | Species | Name | Description | Gene count |
|---|---|---|---|---|---|
| L00000009 | G2C | Homo sapiens | Human PSD | Human orthologues of mouse PSD adapted from Collins et al (2006) | 1080 |
| L00000015 | G2C | Homo sapiens | Human NRC | Human orthologues of mouse NRC adapted from Collins et al (2006) | 186 |
| L00000016 | G2C | Homo sapiens | Human PSP | Human orthologues of mouse PSP adapted from Collins et al (2006) | 1121 |
| L00000034 | G2C | Homo sapiens | Pocklington H3 | Human orthologues of cluster 3 (mouse) from Pocklington et al (2006) | 30 |
| L00000059 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-CONSENSUS | Human cortex PSD consensus | 748 |
| L00000069 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-FULL | Human cortex biopsy PSD full list | 1461 |
| L00000071 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-FULL | Mouse cortex PSD full list (ortho) | 1556 |