Aliases & Classifications for Rasopathy

MalaCards integrated aliases for Rasopathy:

Name: Rasopathy 12 58 29 6 17
Ras/mitogen-Activated Protein Kinase Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080690
Orphanet 58 ORPHA536391

Summaries for Rasopathy

Disease Ontology : 12 A syndrome that has material basis in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.

MalaCards based summary : Rasopathy, also known as ras/mitogen-activated protein kinase syndrome, is related to legius syndrome and arteriovenous malformation. An important gene associated with Rasopathy is CBL (Cbl Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drug Natriuretic Peptide, C-Type has been mentioned in the context of this disorder. Affiliated tissues include testes, brain and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic... more...

Related Diseases for Rasopathy

Diseases related to Rasopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 legius syndrome 31.6 SPRED1 PTPN11 NF1 HRAS
2 arteriovenous malformation 30.6 MAP2K1 KRAS HRAS
3 lentigines 30.6 RAF1 PTPN11 MAP2K2 MAP2K1 BRAF
4 heart septal defect 30.4 SOS1 SHOC2 PTPN11
5 syringocystadenoma papilliferum 30.3 KRAS BRAF
6 patent ductus arteriosus 1 30.1 SOS1 SHOC2 PTPN11
7 pyogenic granuloma 30.1 NRAS KRAS
8 cryptorchidism, unilateral or bilateral 30.1 SOS1 SHOC2 PTPN11 HRAS
9 neurofibromatosis-noonan syndrome 30.1 SPRED1 SOS1 SHOC2 PTPN11 NF1 MAP2K2
10 neurofibromatosis, type i 30.1 PTPN11 NF1 HRAS
11 oculoectodermal syndrome 30.1 NRAS KRAS HRAS
12 schimmelpenning-feuerstein-mims syndrome 30.0 NRAS KRAS HRAS
13 pulmonary valve stenosis 30.0 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
14 atrial heart septal defect 30.0 SOS1 SHOC2 PTPN11 HRAS
15 hypertelorism 30.0 RAF1 PTPN11 CBL BRAF
16 embryonal rhabdomyosarcoma 30.0 PTPN11 KRAS HRAS
17 cystic lymphangioma 29.9 SOS1 PTPN11
18 rhabdomyosarcoma 29.9 PTPN11 MAP2K1 KRAS HRAS
19 ptosis 29.9 SOS1 SHOC2 PTPN11 CBL
20 ras-associated autoimmune leukoproliferative disorder 29.8 NRAS KRAS HRAS
21 neurofibromatosis 29.7 SPRED1 PTPN11 NF1 KRAS HRAS
22 noonan syndrome with multiple lentigines 29.7 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NF1
23 myeloproliferative neoplasm 29.6 PTPN11 NRAS NF1 HRAS
24 li-fraumeni syndrome 29.5 NF1 KRAS HRAS
25 moyamoya disease 1 29.4 SHOC2 NF1 MRAS
26 costello syndrome 29.4 SPRED1 SOS1 SHOC2 PTPN11 NF1 MAP2K2
27 nevus, epidermal 29.2 NRAS NF1 KRAS HRAS
28 noonan syndrome 1 29.2 SOS1 SHOC2 RAF1 PTPN11 NRAS NF1
29 chronic myelomonocytic leukemia 29.1 PTPN11 NRAS NF1 KRAS CBL
30 myelodysplastic/myeloproliferative neoplasm 29.1 PTPN11 NRAS NF1 HRAS CBL
31 myeloid leukemia 28.7 RAF1 PTPN11 NRAS MAP2K1 KRAS HRAS
32 noonan syndrome 3 28.6 SOS1 SHOC2 RAF1 PTPN11 LRRC56 KRAS
33 melanoma 28.6 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
34 hypertrophic cardiomyopathy 28.4 SOS1 SHOC2 RAF1 PTPN11 MRAS MAP2K2
35 cardiofaciocutaneous syndrome 1 28.2 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NRAS
36 leukemia 28.1 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
37 pulmonic stenosis 27.6 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
38 juvenile myelomonocytic leukemia 26.3 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NRAS
39 noonan syndrome-like disorder with loose anagen hair 1 11.2
40 pseudo-turner syndrome 10.8
41 leopard syndrome 2 10.4 RAF1 PTPN11
42 villonodular synovitis 10.4 SOS1 PTPN11
43 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.4 PTPN11 CBL
44 hyperplastic polyposis syndrome 10.4 KRAS BRAF
45 apocrine adenoma 10.4 KRAS BRAF
46 atrial standstill 1 10.4
47 melphalan allergy 10.3 NRAS BRAF
48 capillary malformation-arteriovenous malformation 1 10.3
49 alacrima, achalasia, and mental retardation syndrome 10.3
50 signet ring basal cell carcinoma 10.3 KRAS HRAS

Graphical network of the top 20 diseases related to Rasopathy:



Diseases related to Rasopathy

Symptoms & Phenotypes for Rasopathy

GenomeRNAi Phenotypes related to Rasopathy according to GeneCards Suite gene sharing:

26 (show all 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.59 CBL HRAS KRAS BRAF
2 Decreased viability GR00055-A-2 10.59 CBL HRAS KRAS BRAF
3 Decreased viability GR00055-A-3 10.59 KRAS
4 Decreased viability GR00106-A-0 10.59 KRAS
5 Decreased viability GR00107-A-1 10.59 MAP2K1
6 Decreased viability GR00221-A-1 10.59 HRAS NRAS KRAS NF1 RAF1
7 Decreased viability GR00221-A-2 10.59 CBL HRAS KRAS NF1 RAF1
8 Decreased viability GR00221-A-3 10.59 CBL HRAS MAP2K1 NRAS
9 Decreased viability GR00221-A-4 10.59 NF1 BRAF
10 Decreased viability GR00249-S 10.59 NF1 BRAF
11 Decreased viability GR00301-A 10.59 KRAS RAF1 BRAF
12 Decreased viability GR00381-A-1 10.59 KRAS BRAF
13 Decreased viability GR00386-A-1 10.59 NF1
14 Decreased viability GR00402-S-2 10.59 RAF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.33 SOS1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.33 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.33 CBL
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.33 PTPN11
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.33 SOS1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.33 PTPN11
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.33 CBL
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.33 PTPN11
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.33 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.33 CBL
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.33 PTPN11 RAF1 SOS1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.33 RAF1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.33 BRAF
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.33 BRAF
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.33 PTPN11
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.33 BRAF
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.33 SOS1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.33 RAF1
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.33 BRAF
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.33 BRAF
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.33 BRAF
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.33 PTPN11
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.33 CBL
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.33 CBL
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.33 PTPN11
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.33 SOS1
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.33 BRAF
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 10.33 NF1
43 Decreased cell migration GR00055-A-1 9.91 SOS1 MAP2K2
44 Decreased cell migration GR00055-A-3 9.91 BRAF CBL HRAS
45 Reduced mammosphere formation GR00396-S 9.17 BRAF HRAS KRAS NRAS PTPN11 SHOC2

MGI Mouse Phenotypes related to Rasopathy:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
2 craniofacial MP:0005382 10.37 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
3 growth/size/body region MP:0005378 10.37 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
4 behavior/neurological MP:0005386 10.31 BRAF CBL HRAS KRAS MAP2K2 NF1
5 endocrine/exocrine gland MP:0005379 10.31 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
6 cellular MP:0005384 10.3 BRAF CBL KRAS MAP2K1 MAP2K2 NF1
7 homeostasis/metabolism MP:0005376 10.3 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
8 integument MP:0010771 10.27 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
9 digestive/alimentary MP:0005381 10.24 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10 hematopoietic system MP:0005397 10.24 BRAF CBL KRAS MRAS NF1 NRAS
11 embryo MP:0005380 10.23 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
12 immune system MP:0005387 10.21 BRAF CBL KRAS MRAS NF1 NRAS
13 mortality/aging MP:0010768 10.21 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
14 hearing/vestibular/ear MP:0005377 10.15 BRAF CBL KRAS MAP2K1 MAP2K2 NF1
15 normal MP:0002873 10.06 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
16 limbs/digits/tail MP:0005371 10.02 BRAF CBL KRAS NF1 NRAS PTPN11
17 neoplasm MP:0002006 10.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
18 liver/biliary system MP:0005370 10 BRAF CBL KRAS NF1 NRAS PTPN11
19 muscle MP:0005369 9.95 BRAF CBL KRAS NF1 PTPN11 RAF1
20 respiratory system MP:0005388 9.81 BRAF CBL HRAS KRAS NF1 PTPN11
21 pigmentation MP:0001186 9.73 BRAF CBL KRAS NF1 NRAS PTPN11
22 skeleton MP:0005390 9.7 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
23 vision/eye MP:0005391 9.28 BRAF KRAS MAP2K1 MAP2K2 NF1 NRAS

Drugs & Therapeutics for Rasopathy

Drugs for Rasopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Peptide, C-Type Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vosoritide for Selected Genetic Causes of Short Stature Recruiting NCT04219007 Phase 2 Vosoritide
2 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
3 Hematological Anomalies in Children With Rasopathy Not yet recruiting NCT04286360

Search NIH Clinical Center for Rasopathy

Genetic Tests for Rasopathy

Genetic tests related to Rasopathy:

# Genetic test Affiliating Genes
1 Rasopathy 29

Anatomical Context for Rasopathy

MalaCards organs/tissues related to Rasopathy:

40
Testes, Brain, Heart, Cortex, Spinal Cord, Skin, Myeloid

Publications for Rasopathy

Articles related to Rasopathy:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts. 61
32240795 2020
2
Classification of aplasia cutis congenita: a twenty-five-year review of cases presenting to a tertiary paediatric dermatology department. 61
32501579 2020
3
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
4
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R. 61
32187889 2020
5
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. 61
32499600 2020
6
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. 61
32460983 2020
7
Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy. 61
32388560 2020
8
Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients. 61
32344757 2020
9
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. 61
32107864 2020
10
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
11
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2020
12
Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency. 61
31115076 2020
13
Increased nuchal translucency: diagnostic value of RASopathy-disorder testing. 61
32115807 2020
14
The sixth international RASopathies symposium: Precision medicine-From promise to practice. 61
31825160 2020
15
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules. 61
31573083 2020
16
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2020
17
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
18
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer. 61
31836666 2020
19
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
20
First case report of tongue squamous cell carcinoma in a neurofibromatosis type 1 patient and review of pathogenesis of carcinoma in neurofibromatosis type 1. 61
32031137 2020
21
[Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium]. 61
31821386 2019
22
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels. 61
31783775 2019
23
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
24
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 61
31040167 2019
25
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019
26
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. 61
31406347 2019
27
Costello syndrome: Clinical phenotype, genotype, and management guidelines. 61
31222966 2019
28
Structural basis of the atypical activation mechanism of KRASV14I. 61
31341022 2019
29
Cardiac transplantation in children with Noonan syndrome. 61
31259454 2019
30
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 61
31336229 2019
31
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST). 61
31397088 2019
32
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
33
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 61
31059601 2019
34
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 61
31277675 2019
35
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 61
31130282 2019
36
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. 61
30622101 2019
37
NF1 Somatic Mutation in Dystrophic Scoliosis. 61
30778836 2019
38
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 61
31108500 2019
39
Cardiac Manifestations of Noonan Syndrome. 61
31115199 2019
40
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning. 61
31017896 2019
41
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy. 61
30762279 2019
42
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 61
30481304 2019
43
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom. 61
30535072 2019
44
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. 61
30732632 2019
45
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. 61
30808747 2019
46
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. 61
30803559 2019
47
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. 61
30827948 2019
48
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. 61
30443000 2019
49
Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome. 61
31649741 2019
50
LZTR1: Genotype Expansion in Noonan Syndrome. 61
31533111 2019

Variations for Rasopathy

ClinVar genetic disease variations for Rasopathy:

6 (show top 50) (show all 1043) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP2K2 NM_030662.3(MAP2K2):c.171T>A (p.Phe57Leu)SNV Pathogenic 578970 rs1057519910 19:4117549-4117549 19:4117551-4117551
2 SHOC2 NC_000010.10:g.(?_112327555)_(112771596_?)dupduplication Pathogenic 654674 10:112327555-112771596 10:110567797-111011838
3 PTPN11 NM_002834.4(PTPN11):c.1506_1507delinsCC (p.Gly503Arg)indel Pathogenic 571101 rs1566186833 12:112926886-112926887 12:112489082-112489083
4 KRAS NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)SNV Pathogenic 12597 rs104894359 12:25380280-25380280 12:25227346-25227346
5 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
6 HRAS NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 12604 rs104894226 11:534285-534285 11:534285-534285
7 HRAS NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 12606 rs104894228 11:534286-534286 11:534286-534286
8 HRAS NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12612 rs104894230 11:534288-534288 11:534288-534288
9 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
10 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys)SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211
11 SOS1 NM_005633.3(SOS1):c.806T>G (p.Met269Arg)SNV Pathogenic 12870 rs137852813 2:39278343-39278343 2:39051202-39051202
12 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly)SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774
13 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser)SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772
14 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg)SNV Pathogenic 12873 rs267607080 2:39250275-39250275 2:39023134-39023134
15 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394
16 KRAS NM_033360.4(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
17 KRAS NM_033360.4(KRAS):c.178G>C (p.Gly60Arg)SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
18 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
19 KRAS NM_033360.4(KRAS):c.173C>T (p.Thr58Ile)SNV Pathogenic 12588 rs104894364 12:25380285-25380285 12:25227351-25227351
20 KRAS NM_033360.4(KRAS):c.40G>A (p.Val14Ile)SNV Pathogenic 12589 rs104894365 12:25398279-25398279 12:25245345-25245345
21 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)SNV Pathogenic 13326 rs28933386 12:112915523-112915523 12:112477719-112477719
22 PTPN11 NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)SNV Pathogenic 13330 rs121918461 12:112888166-112888166 12:112450362-112450362
23 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720
24 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364
25 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)SNV Pathogenic 13331 rs121918457 12:112926270-112926270 12:112488466-112488466
26 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368
27 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
28 PTPN11 NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)SNV Pathogenic 13335 rs121918463 12:112915455-112915455 12:112477651-112477651
29 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
30 PTPN11 NM_002834.4(PTPN11):c.227A>T (p.Glu76Val)SNV Pathogenic 13337 rs121918465 12:112888211-112888211 12:112450407-112450407
31 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416
32 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)SNV Pathogenic 13342 rs121918468 12:112926248-112926248 12:112488444-112488444
33 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)SNV Pathogenic 13343 rs121918469 12:112926258-112926258 12:112488454-112488454
34 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)SNV Pathogenic 13344 rs121918470 12:112926909-112926909 12:112489105-112489105
35 PTPN11 NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)SNV Pathogenic 13349 rs267606990 12:112856920-112856920 12:112419116-112419116
36 MAP2K1 NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)SNV Pathogenic 13351 rs121908595 15:66729181-66729181 15:66436843-66436843
37 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro)SNV Pathogenic 13807 rs267606704 11:119148880-119148880 11:119278170-119278170
38 CBL NM_005188.3(CBL):c.1111T>C (p.Tyr371His)SNV Pathogenic 13811 rs267606706 11:119148891-119148891 11:119278181-119278181
39 NRAS NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)SNV Pathogenic 13902 rs267606921 1:115256562-115256562 1:114713941-114713941
40 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu)SNV Pathogenic 13957 rs80338796 3:12645699-12645699 3:12604200-12604200
41 RAF1 NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser)SNV Pathogenic 13958 rs121434594 3:12645688-12645688 3:12604189-12604189
42 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val)SNV Pathogenic 13960 rs80338797 3:12626123-12626123 3:12584624-12584624
43 BRAF NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu)SNV Pathogenic 13964 rs121913348 7:140481417-140481417 7:140781617-140781617
44 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362
45 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro)SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
46 BRAF NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg)SNV Pathogenic 13973 rs180177035 7:140501302-140501302 7:140801502-140801502
47 BRAF NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu)SNV Pathogenic 13974 rs121913355 7:140481402-140481402 7:140781602-140781602
48 BRAF NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe)SNV Pathogenic 13975 rs180177036 7:140477853-140477853 7:140778053-140778053
49 BRAF NM_001374258.1(BRAF):c.1861A>G (p.Asn621Asp)SNV Pathogenic 13979 rs180177040 7:140453987-140453987 7:140754187-140754187
50 BRAF NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)SNV Pathogenic 29808 rs606231228 7:140476813-140476813 7:140777013-140777013

Expression for Rasopathy

Search GEO for disease gene expression data for Rasopathy.

Pathways for Rasopathy

Pathways related to Rasopathy according to GeneCards Suite gene sharing:

(show top 50) (show all 219)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.31 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
2
Show member pathways
14.19 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
3
Show member pathways
14.01 SOS1 RAF1 NRAS NF1 MRAS MAP2K2
4
Show member pathways
13.97 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
5
Show member pathways
13.91 SOS1 RAF1 PTPN11 NRAS NF1 MAP2K2
6
Show member pathways
13.87 SOS1 SNAPC5 RAF1 NRAS MAP2K1 KRAS
7
Show member pathways
13.85 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
8
Show member pathways
13.82 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
9
Show member pathways
13.76 SOS1 RAF1 PTPN11 NRAS MRAS MAP2K2
10
Show member pathways
13.73 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
11
Show member pathways
13.73 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
12
Show member pathways
13.61 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
13
Show member pathways
13.6 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
14
Show member pathways
13.57 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
15
Show member pathways
13.52 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
16
Show member pathways
13.51 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
17
Show member pathways
13.46 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
18
Show member pathways
13.4 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
19
Show member pathways
13.33 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
20
Show member pathways
13.32 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
21
Show member pathways
13.3 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
22
Show member pathways
13.29 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
23
Show member pathways
13.28 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
24
Show member pathways
13.28 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
25
Show member pathways
13.27 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
26
Show member pathways
13.19 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
27
Show member pathways
13.19 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
28
Show member pathways
13.18 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
29
Show member pathways
13.18 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
30
Show member pathways
13.17 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
31
Show member pathways
13.17 SPRED1 SOS1 RAF1 NRAS MAP2K2 MAP2K1
32
Show member pathways
13.15 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
33
Show member pathways
13.15 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
34
Show member pathways
13.15 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
35
Show member pathways
13.14 SOS1 RAF1 NRAS MRAS MAP2K1 KRAS
36
Show member pathways
13.13 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
37
Show member pathways
13.12 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
38 13.12 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
39
Show member pathways
13.08 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
40
Show member pathways
13.07 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
41
Show member pathways
13.04 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
42 13.02 SOS1 RAF1 NRAS NF1 MRAS MAP2K2
43
Show member pathways
12.98 SOS1 PTPN11 NRAS KRAS HRAS
44
Show member pathways
12.97 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
45
Show member pathways
12.96 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
46
Show member pathways
12.96 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
47
Show member pathways
12.93 SOS1 PTPN11 NRAS KRAS HRAS CBL
48
Show member pathways
12.93 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
49 12.93 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
50
Show member pathways
12.92 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS

GO Terms for Rasopathy

Cellular components related to Rasopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.4 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NF1

Biological processes related to Rasopathy according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.92 SOS1 PTPN11 KRAS CBL
2 signal transduction GO:0007165 9.9 SOS1 SHOC2 RAF1 NRAS NF1 MRAS
3 heart development GO:0007507 9.89 RAF1 PTPN11 NF1 MAP2K1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.86 PTPN11 MAP2K1 HRAS BRAF
5 activation of MAPK activity GO:0000187 9.81 PTPN11 MAP2K2 MAP2K1
6 liver development GO:0001889 9.79 NF1 KRAS HRAS
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.78 RAF1 NRAS KRAS HRAS
8 visual learning GO:0008542 9.72 NF1 KRAS BRAF
9 thymus development GO:0048538 9.71 RAF1 MAP2K1 BRAF
10 interleukin-6-mediated signaling pathway GO:0070102 9.63 PTPN11 CBL
11 regulation of synaptic transmission, GABAergic GO:0032228 9.63 NF1 KRAS
12 thyroid gland development GO:0030878 9.63 RAF1 MAP2K1 BRAF
13 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.62 MAP2K2 MAP2K1
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.62 SPRED1 SHOC2 PTPN11 CBL
15 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAP2K2 MAP2K1
16 regulation of long-term neuronal synaptic plasticity GO:0048169 9.61 NF1 KRAS HRAS
17 Bergmann glial cell differentiation GO:0060020 9.6 PTPN11 MAP2K1
18 regulation of early endosome to late endosome transport GO:2000641 9.58 MAP2K2 MAP2K1
19 regulation of axon regeneration GO:0048679 9.58 MAP2K1 BRAF
20 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SOS1 RAF1 PTPN11
21 response to isolation stress GO:0035900 9.57 KRAS HRAS
22 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
23 face development GO:0060324 9.54 RAF1 MAP2K1 BRAF
24 regulation of Golgi inheritance GO:0090170 9.52 MAP2K2 MAP2K1
25 cerebellar cortex formation GO:0021697 9.51 PTPN11 MAP2K1
26 Ras protein signal transduction GO:0007265 9.5 SOS1 SHOC2 NRAS NF1 MRAS KRAS
27 forebrain astrocyte development GO:0021897 9.49 NF1 KRAS
28 MAPK cascade GO:0000165 9.32 SPRED1 SOS1 RAF1 NRAS NF1 MAP2K2

Molecular functions related to Rasopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.86 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
2 protein binding GO:0005515 9.86 SPRED1 SOS1 SNAPC5 SHOC2 RAF1 PTPN11
3 GTPase activity GO:0003924 9.73 NRAS MRAS KRAS HRAS
4 protein tyrosine kinase activity GO:0004713 9.65 MAP2K2 MAP2K1 BRAF
5 protein-containing complex binding GO:0044877 9.55 RAF1 NRAS KRAS HRAS BRAF
6 scaffold protein binding GO:0097110 9.5 MAP2K2 MAP2K1 BRAF
7 MAP kinase kinase activity GO:0004708 9.46 MAP2K2 MAP2K1
8 mitogen-activated protein kinase kinase binding GO:0031434 9.4 RAF1 BRAF
9 MAP-kinase scaffold activity GO:0005078 9.37 MAP2K2 MAP2K1
10 GDP binding GO:0019003 8.92 NRAS MRAS KRAS HRAS

Sources for Rasopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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