Aliases & Classifications for Rasopathy

MalaCards integrated aliases for Rasopathy:

Name: Rasopathy 58 29 6 17

Classifications:



External Ids:

Orphanet 58 ORPHA536391

Summaries for Rasopathy

MalaCards based summary : Rasopathy is related to legius syndrome and neurofibromatosis-noonan syndrome. An important gene associated with Rasopathy is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Affiliated tissues include thyroid, skin and lung, 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 32.6 SPRED1 PTPN11 NF1
2 neurofibromatosis-noonan syndrome 32.6 PTPN11 NF1 MAP2K2
3 lentigines 31.4 RAF1 PTPN11 BRAF
4 costello syndrome 31.1 SOS1 SHOC2 PTPN11 NF1 MAP2K2 MAP2K1
5 leopard syndrome 31.0 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NF1
6 heart septal defect 30.6 SOS1 SHOC2 PTPN11
7 noonan syndrome-like disorder with loose anagen hair 1 30.5 SHOC2 PPP1CB
8 cryptorchidism, unilateral or bilateral 30.4 SOS1 SHOC2 PTPN11 HRAS
9 schimmelpenning-feuerstein-mims syndrome 30.3 NRAS KRAS HRAS
10 syringocystadenoma papilliferum 30.3 KRAS BRAF
11 pulmonary valve stenosis 30.3 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
12 embryonal rhabdomyosarcoma 30.2 SOS1 PTPN11 HRAS
13 pyogenic granuloma 30.2 NRAS KRAS
14 thyroid carcinoma 30.2 NRAS HRAS BRAF
15 ras-associated autoimmune leukoproliferative disorder 30.1 NRAS KRAS HRAS
16 hypertrophic cardiomyopathy 30.0 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
17 neurofibromatosis, type iv, of riccardi 29.8 SPRED1 PTPN11 NF1 LZTR1 KRAS HRAS
18 moyamoya disease 1 29.8 SHOC2 NF1 MRAS
19 hypertelorism 29.7 RAF1 PTPN11 LZTR1 BRAF
20 ptosis 29.6 SOS1 SHOC2 PPP1CB CBL
21 nevus, epidermal 29.6 NRAS NF1 KRAS HRAS
22 atrial heart septal defect 29.6 SOS1 SHOC2 PTPN11 LZTR1 HRAS
23 neurilemmomatosis 29.4 SPRED1 NF1 LZTR1
24 rhabdomyosarcoma 29.3 PTPN11 MAP2K1 KRAS HRAS EGFR
25 noonan syndrome 3 29.2 SOS1 SHOC2 RAF1 PTPN11 LRRC56 KRAS
26 li-fraumeni syndrome 29.0 NF1 KRAS HRAS EGFR
27 noonan syndrome 1 28.8 SOS1 SHOC2 RRAS RAF1 PTPN11 NRAS
28 myeloproliferative neoplasm 28.8 PTPN11 NRAS NF1 HRAS EGFR
29 leukemia 28.5 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
30 pulmonic stenosis 28.4 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
31 melanoma 28.2 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
32 cardiofaciocutaneous syndrome 1 28.1 SPRED1 SOS1 SHOC2 RRAS RAF1 PTPN11
33 juvenile myelomonocytic leukemia 26.7 SPRED1 SOS1 SHOC2 RRAS RAF1 PTPN11
34 neurofibromatosis, type i 11.5
35 pseudo-turner syndrome 10.8
36 spitzoid melanoma 10.5 HRAS BRAF
37 villonodular synovitis 10.5 SOS1 PTPN11
38 hyperplastic polyposis syndrome 10.5 KRAS BRAF
39 apocrine adenoma 10.5 KRAS BRAF
40 selection of therapeutic option in melanoma 10.5 NRAS BRAF
41 signet ring basal cell carcinoma 10.4 KRAS HRAS
42 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.4 PTPN11 CBL
43 melphalan allergy 10.4 NRAS BRAF
44 trachea carcinoma in situ 10.4 KRAS HRAS
45 melanoma in congenital melanocytic nevus 10.4 NRAS BRAF
46 nasal cavity adenocarcinoma 10.4 KRAS HRAS
47 ampulla of vater neoplasm 10.4 KRAS HRAS
48 periampullary adenoma 10.4 KRAS HRAS
49 eccrine papillary adenoma 10.4 KRAS HRAS
50 testicular spermatocytic seminoma 10.4 PTPN11 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 46)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.85 CBL HRAS KRAS EGFR BRAF
2 Decreased viability GR00106-A-0 10.85 KRAS
3 Decreased viability GR00221-A-1 10.85 HRAS KRAS NF1 RAF1 EGFR NRAS
4 Decreased viability GR00221-A-2 10.85 CBL HRAS KRAS NF1 RAF1
5 Decreased viability GR00221-A-3 10.85 CBL HRAS NRAS
6 Decreased viability GR00221-A-4 10.85 NF1 EGFR BRAF
7 Decreased viability GR00231-A 10.85 RAF1
8 Decreased viability GR00301-A 10.85 KRAS RAF1 BRAF
9 Decreased viability GR00381-A-1 10.85 KRAS BRAF
10 Decreased viability GR00402-S-2 10.85 CBL HRAS KRAS NF1 RAF1 EGFR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.25 SOS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.25 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.25 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.25 SOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.25 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.25 CBL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.25 SOS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.25 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.25 BRAF CBL NF1 PTPN11 RAF1 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.25 CBL RAF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.25 RAF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.25 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.25 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.25 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.25 CBL
26 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.25 PTPN11
27 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.25 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.25 CBL
29 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.25 CBL
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.25 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.25 BRAF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.25 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.25 PTPN11
34 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.25 CBL
35 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.25 NF1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.25 BRAF PTPN11
37 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.25 RAF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.25 PTPN11
39 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.25 NF1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.25 PTPN11
41 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.25 CBL
42 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.25 NF1
43 Decreased cell migration GR00055-A-1 9.97 BRAF CBL EGFR HRAS KRAS MAP2K2
44 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.72 EGFR HRAS NRAS PPP1CB PTPN11
45 Increased cell migration GR00055-A-3 9.7 BRAF CBL EGFR HRAS KRAS NF1
46 Reduced mammosphere formation GR00396-S 9.28 BRAF EGFR HRAS KRAS NRAS PPP1CB

MGI Mouse Phenotypes related to Rasopathy:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.48 BRAF CBL EGFR HRAS KRAS LZTR1
2 craniofacial MP:0005382 10.44 BRAF CBL EGFR HRAS KRAS LZTR1
3 growth/size/body region MP:0005378 10.43 BRAF CBL EGFR HRAS KRAS LZTR1
4 homeostasis/metabolism MP:0005376 10.4 BRAF CBL EGFR HRAS KRAS LZTR1
5 cellular MP:0005384 10.38 BRAF CBL EGFR KRAS LZTR1 MAP2K1
6 endocrine/exocrine gland MP:0005379 10.35 BRAF CBL EGFR HRAS KRAS MAP2K1
7 hematopoietic system MP:0005397 10.31 BRAF CBL EGFR KRAS MRAS NF1
8 integument MP:0010771 10.31 BRAF CBL EGFR HRAS KRAS MAP2K1
9 mortality/aging MP:0010768 10.31 BRAF CBL EGFR HRAS KRAS LZTR1
10 immune system MP:0005387 10.29 BRAF CBL EGFR KRAS MRAS NF1
11 digestive/alimentary MP:0005381 10.28 BRAF EGFR HRAS KRAS MAP2K1 MAP2K2
12 embryo MP:0005380 10.27 BRAF EGFR KRAS MAP2K1 NF1 NRAS
13 hearing/vestibular/ear MP:0005377 10.2 BRAF CBL EGFR KRAS MAP2K1 MAP2K2
14 neoplasm MP:0002006 10.11 BRAF EGFR HRAS KRAS MAP2K1 MAP2K2
15 normal MP:0002873 10.1 BRAF EGFR HRAS KRAS MAP2K1 MAP2K2
16 limbs/digits/tail MP:0005371 10.08 BRAF CBL EGFR KRAS NF1 NRAS
17 liver/biliary system MP:0005370 10.06 BRAF CBL EGFR KRAS NF1 NRAS
18 muscle MP:0005369 10.06 BRAF CBL EGFR KRAS LZTR1 NF1
19 respiratory system MP:0005388 9.85 BRAF CBL EGFR HRAS KRAS NF1
20 pigmentation MP:0001186 9.8 BRAF CBL EGFR KRAS NF1 NRAS
21 skeleton MP:0005390 9.77 BRAF CBL EGFR HRAS KRAS LZTR1
22 vision/eye MP:0005391 9.32 BRAF EGFR KRAS MAP2K1 MAP2K2 NF1

Drugs & Therapeutics for Rasopathy

Search Clinical Trials , 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
Thyroid, Skin, Lung, Heart, Myeloid, Brain, Spinal Cord

Publications for Rasopathy

Articles related to Rasopathy:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
2
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
3
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2020
4
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
5
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer. 61
31836666 2020
6
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
7
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
8
[Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium]. 61
31821386 2019
9
The sixth international RASopathies symposium: Precision medicine-From promise to practice. 61
31825160 2019
10
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels. 61
31783775 2019
11
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
12
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019
13
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 61
31040167 2019
14
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. 61
31406347 2019
15
Costello syndrome: Clinical phenotype, genotype, and management guidelines. 61
31222966 2019
16
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST). 61
31397088 2019
17
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
18
Cardiac transplantation in children with Noonan syndrome. 61
31259454 2019
19
LZTR1: Genotype Expansion in Noonan Syndrome. 61
31533111 2019
20
Structural basis of the atypical activation mechanism of KRASV14I. 61
31341022 2019
21
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
22
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 61
31059601 2019
23
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 61
31277675 2019
24
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 61
31130282 2019
25
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. 61
30622101 2019
26
Increased nuchal translucency: results from microarray and RASopathy disorders testing. 61
31115076 2019
27
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 61
31108500 2019
28
Cardiac Manifestations of Noonan Syndrome. 61
31115199 2019
29
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2019
30
NF1 Somatic Mutation in Dystrophic Scoliosis. 61
30778836 2019
31
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning. 61
31017896 2019
32
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy. 61
30762279 2019
33
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom. 61
30535072 2019
34
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 61
30481304 2019
35
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. 61
30732632 2019
36
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. 61
30808747 2019
37
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. 61
30803559 2019
38
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. 61
30443000 2019
39
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. 61
30827948 2019
40
Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome. 61
31649741 2019
41
RASopathy in Patients With Isolated Sagittal Synostosis. 61
31192281 2019
42
MRAS: A Close but Understudied Member of the RAS Family. 61
29311130 2018
43
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. 61
30430033 2018
44
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. 61
30462361 2018
45
RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges. 61
30007125 2018
46
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 61
29493581 2018
47
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. 61
30311384 2018
48
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing. 61
29945942 2018
49
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. 61
29924299 2018
50
Cardiovascular disease in Noonan syndrome. 61
30024444 2018

Variations for Rasopathy

ClinVar genetic disease variations for Rasopathy:

6 (show top 50) (show all 787) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN11 NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala)SNV Pathogenic 162464 rs397507546 12:112926888-112926888 12:112489084-112489084
2 BRAF NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)SNV Pathogenic 177672 rs121913341 7:140453150-140453150 7:140753350-140753350
3 BRAF NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)SNV Pathogenic 162797 rs180177042 7:140449165-140449165 7:140749365-140749365
4 MAP2K2 NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys)SNV Pathogenic 177868 rs727504370 19:4110556-4110556 19:4110558-4110558
5 BRAF NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)SNV Pathogenic 180784 rs397516903 7:140501333-140501333 7:140801533-140801533
6 CBL NM_005188.3(CBL):c.1096-1G>TSNV Pathogenic 180815 rs397517076 11:119148875-119148875 11:119278165-119278165
7 HRAS NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp)indel Pathogenic 180854 rs727503094 11:534287-534288 11:534287-534288
8 CBL NM_005188.2:c.1227+2_1227+3delTACinsAAGinsertion Pathogenic 180826
9 KRAS NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)SNV Pathogenic 12597 rs104894359 12:25380280-25380280 12:25227346-25227346
10 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
11 HRAS NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12612 rs104894230 11:534288-534288 11:534288-534288
12 HRAS NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 12604 rs104894226 11:534285-534285 11:534285-534285
13 HRAS NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 12606 rs104894228 11:534286-534286 11:534286-534286
14 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
15 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys)SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211
16 SOS1 NM_005633.3(SOS1):c.806T>G (p.Met269Arg)SNV Pathogenic 12870 rs137852813 2:39278343-39278343 2:39051202-39051202
17 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly)SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774
18 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser)SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772
19 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg)SNV Pathogenic 12873 rs267607080 2:39250275-39250275 2:39023134-39023134
20 PTPN11 NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser)SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394
21 PTPN11 NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly)SNV Pathogenic 13325 rs121918454 12:112888199-112888199 12:112450395-112450395
22 PTPN11 NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp)SNV Pathogenic 13326 rs28933386 12:112915523-112915523 12:112477719-112477719
23 PTPN11 NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser)SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720
24 SHOC2 NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly)SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362
25 PTPN11 NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile)SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
26 PTPN11 NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp)SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364
27 PTPN11 NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly)SNV Pathogenic 13330 rs121918461 12:112888166-112888166 12:112450362-112450362
28 PTPN11 NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met)SNV Pathogenic 13331 rs121918457 12:112926270-112926270 12:112488466-112488466
29 PTPN11 NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys)SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368
30 PTPN11 NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser)SNV Pathogenic 13335 rs121918463 12:112915455-112915455 12:112477651-112477651
31 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
32 PTPN11 NM_002834.4(PTPN11):c.227A>T (p.Glu76Val)SNV Pathogenic 13337 rs121918465 12:112888211-112888211 12:112450407-112450407
33 PTPN11 NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg)SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416
34 PTPN11 NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr)SNV Pathogenic 13342 rs121918468 12:112926248-112926248 12:112488444-112488444
35 PTPN11 NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala)SNV Pathogenic 13343 rs121918469 12:112926258-112926258 12:112488454-112488454
36 PTPN11 NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro)SNV Pathogenic 13344 rs121918470 12:112926909-112926909 12:112489105-112489105
37 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
38 KRAS NM_033360.4(KRAS):c.178G>C (p.Gly60Arg)SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
39 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
40 KRAS NM_033360.4(KRAS):c.173C>T (p.Thr58Ile)SNV Pathogenic 12588 rs104894364 12:25380285-25380285 12:25227351-25227351
41 KRAS NM_033360.4(KRAS):c.40G>A (p.Val14Ile)SNV Pathogenic 12589 rs104894365 12:25398279-25398279 12:25245345-25245345
42 PTPN11 NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile)SNV Pathogenic 13349 rs267606990 12:112856920-112856920 12:112419116-112419116
43 MAP2K1 NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys)SNV Pathogenic 13351 rs121908595 15:66729181-66729181 15:66436843-66436843
44 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro)SNV Pathogenic 13807 rs267606704 11:119148880-119148880 11:119278170-119278170
45 CBL NM_005188.3(CBL):c.1111T>C (p.Tyr371His)SNV Pathogenic 13811 rs267606706 11:119148891-119148891 11:119278181-119278181
46 NRAS NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)SNV Pathogenic 13902 rs267606921 1:115256562-115256562 1:114713941-114713941
47 RAF1 NM_002880.3(RAF1):c.770C>T (p.Ser257Leu)SNV Pathogenic 13957 rs80338796 3:12645699-12645699 3:12604200-12604200
48 RAF1 NM_002880.3(RAF1):c.781C>T (p.Pro261Ser)SNV Pathogenic 13958 rs121434594 3:12645688-12645688 3:12604189-12604189
49 RAF1 NM_002880.3(RAF1):c.1837C>G (p.Leu613Val)SNV Pathogenic 13960 rs80338797 3:12626123-12626123 3:12584624-12584624
50 BRAF NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)SNV Pathogenic 13973 rs180177035 7:140501302-140501302 7:140801502-140801502

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 223)
# Super pathways Score Top Affiliating Genes
1
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14.37 SPRED1 SOS1 RAF1 PTPN11 PPP1CB NRAS
2
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14.24 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
3
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14.08 SOS1 RRAS RAF1 NRAS NF1 MRAS
4
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14.07 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
5
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13.96 SOS1 RAF1 PTPN11 NRAS NF1 MAP2K2
6
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13.93 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
7
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13.9 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
8
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13.82 SOS1 RRAS RAF1 PTPN11 NRAS MRAS
9
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13.8 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
10
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13.79 SPRED1 SOS1 RRAS RAF1 PTPN11 NRAS
11
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13.7 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
12
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13.66 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
13
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13.62 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
14
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13.61 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
15
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13.59 SOS1 RRAS RAF1 NRAS MRAS KRAS
16
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13.59 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
17
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13.52 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
18
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13.5 RRAS PTPN11 PPP1CB NRAS MRAS KRAS
19
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13.39 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
20
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13.37 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
21
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13.36 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
22
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13.36 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
23
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13.29 RRAS PTPN11 PPP1CB NRAS KRAS HRAS
24
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13.29 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
25
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13.25 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
26
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13.24 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
27
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13.23 RRAS RAF1 NRAS MRAS MAP2K2 MAP2K1
28
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13.22 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
29
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13.2 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
30
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13.2 SOS1 RAF1 PTPN11 PPP1CB NRAS MAP2K2
31
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13.19 SOS1 RRAS RAF1 NRAS MRAS MAP2K1
32
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13.19 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
33
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13.18 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
34 13.18 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
35
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13.18 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
36
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13.18 SOS1 RRAS RAF1 PPP1CB NRAS MRAS
37
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13.17 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
38
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13.12 SPRED1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
39
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13.12 SOS1 RRAS RAF1 NRAS MRAS MAP2K2
40
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13.1 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
41
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13.09 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
42
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13.05 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
43 13.02 SOS1 RRAS RAF1 NRAS NF1 MRAS
44
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13.01 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
45
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12.99 SOS1 PTPN11 NRAS KRAS HRAS
46
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12.99 SOS1 PTPN11 NRAS KRAS HRAS EGFR
47
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12.99 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
48
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12.99 SOS1 RAF1 PPP1CB NRAS MAP2K2 MAP2K1
49
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12.99 RRAS RAF1 NRAS MRAS MAP2K2 MAP2K1
50
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12.96 SOS1 RAF1 NRAS NF1 MAP2K2 MAP2K1

GO Terms for Rasopathy

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.07 SPRED1 SOS1 RRAS RAF1 PPP1CB NRAS
2 cytosol GO:0005829 9.97 SPRED1 SOS1 SHOC2 RAF1 PTPN11 PPP1CB
3 Golgi apparatus GO:0005794 9.56 RAF1 NRAS MAP2K2 MAP2K1 LZTR1 HRAS
4 protein phosphatase type 1 complex GO:0000164 9.32 SHOC2 PPP1CB
5 focal adhesion GO:0005925 9.17 RRAS PPP1CB MAP2K2 MAP2K1 KRAS EGFR

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.03 SOS1 RRAS RAF1 NRAS NF1 MRAS
2 heart development GO:0007507 9.95 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
3 positive regulation of protein phosphorylation GO:0001934 9.92 RAF1 KRAS HRAS EGFR
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 PTPN11 MAP2K1 HRAS EGFR BRAF
5 peptidyl-tyrosine phosphorylation GO:0018108 9.89 MAP2K2 MAP2K1 EGFR BRAF
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.86 RAF1 NRAS KRAS HRAS
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.84 RAF1 EGFR BRAF
8 liver development GO:0001889 9.83 NF1 KRAS EGFR
9 positive regulation of MAP kinase activity GO:0043406 9.81 KRAS HRAS EGFR
10 visual learning GO:0008542 9.79 NF1 KRAS BRAF
11 activation of MAPKK activity GO:0000186 9.79 RAF1 EGFR BRAF
12 cellular response to epidermal growth factor stimulus GO:0071364 9.78 PTPN11 EGFR CBL
13 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 SPRED1 SHOC2 PTPN11 CBL
14 positive regulation of axonogenesis GO:0050772 9.76 MAP2K2 MAP2K1 BRAF
15 epidermal growth factor receptor signaling pathway GO:0007173 9.73 SOS1 PTPN11 EGFR CBL
16 thymus development GO:0048538 9.71 RAF1 MAP2K2 MAP2K1 BRAF
17 regulation of long-term neuronal synaptic plasticity GO:0048169 9.69 NF1 KRAS HRAS
18 regulation of synaptic transmission, GABAergic GO:0032228 9.67 NF1 KRAS
19 eyelid development in camera-type eye GO:0061029 9.67 SOS1 EGFR
20 neurotrophin TRK receptor signaling pathway GO:0048011 9.67 SOS1 RAF1 PTPN11
21 regulation of stress-activated MAPK cascade GO:0032872 9.65 MAP2K2 MAP2K1
22 regulation of protein heterodimerization activity GO:0043497 9.65 MAP2K2 MAP2K1
23 regulation of early endosome to late endosome transport GO:2000641 9.65 MAP2K2 MAP2K1
24 Bergmann glial cell differentiation GO:0060020 9.64 PTPN11 MAP2K1
25 trachea formation GO:0060440 9.63 MAP2K2 MAP2K1
26 response to isolation stress GO:0035900 9.63 KRAS HRAS
27 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.63 MAP2K2 MAP2K1 EGFR
28 thyroid gland development GO:0030878 9.62 RAF1 MAP2K2 MAP2K1 BRAF
29 regulation of Golgi inheritance GO:0090170 9.6 MAP2K2 MAP2K1
30 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.58 MAP2K2 MAP2K1
31 cerebellar cortex formation GO:0021697 9.57 PTPN11 MAP2K1
32 Ras protein signal transduction GO:0007265 9.56 SOS1 SHOC2 RRAS NRAS NF1 MRAS
33 forebrain astrocyte development GO:0021897 9.54 NF1 KRAS
34 regulation of axon regeneration GO:0048679 9.54 MAP2K2 MAP2K1 BRAF
35 face development GO:0060324 9.46 RAF1 MAP2K2 MAP2K1 BRAF
36 MAPK cascade GO:0000165 9.36 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 protein binding GO:0005515 10.16 SPRED1 SOS1 SNAPC5 SHOC2 RRAS RAF1
2 protein kinase activity GO:0004672 9.88 RAF1 MAP2K2 MAP2K1 EGFR BRAF
3 protein kinase binding GO:0019901 9.85 SPRED1 PTPN11 PPP1CB EGFR CBL
4 GTP binding GO:0005525 9.83 RRAS NRAS MRAS KRAS HRAS
5 GTPase activity GO:0003924 9.8 RRAS NRAS MRAS KRAS HRAS
6 protein tyrosine kinase activity GO:0004713 9.67 MAP2K2 MAP2K1 EGFR BRAF
7 MAP kinase kinase kinase activity GO:0004709 9.5 RAF1 EGFR BRAF
8 Ras GTPase binding GO:0017016 9.43 RAF1 LZTR1 BRAF
9 GDP binding GO:0019003 9.35 RRAS NRAS MRAS KRAS HRAS
10 nucleotide binding GO:0000166 9.23 RAF1 NRAS MAP2K2 MAP2K1 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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