Aliases & Classifications for Rasopathy

MalaCards integrated aliases for Rasopathy:

Name: Rasopathy 12 58 29 6 15 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 noonan syndrome 1 and noonan syndrome with multiple lentigines. 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 brain, heart and cortex, 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 200)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 33.1 SOS2 SOS1 SHOC2 RRAS RIT1 RAF1
2 noonan syndrome with multiple lentigines 33.1 SPRED1 SOS2 SOS1 SHOC2 RRAS RAF1
3 costello syndrome 32.9 SPRED1 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
4 cardiofaciocutaneous syndrome 1 32.9 SPRED1 SOS2 SOS1 SHOC2 RRAS RIT1
5 noonan syndrome-like disorder with loose anagen hair 32.7 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
6 neurofibromatosis-noonan syndrome 32.7 SPRED1 SOS2 SOS1 SHOC2 PTPN11 PPP1CB
7 legius syndrome 32.5 SPRED1 PTPN11 NF1 HRAS
8 pseudo-turner syndrome 32.1 SOS2 SOS1 SHOC2 RIT1 RAF1 PTPN11
9 hypertrophic cardiomyopathy 31.7 SOS2 SOS1 SHOC2 RIT1 RAF1 PTPN11
10 neurofibromatosis 31.7 SPRED1 SOS1 PTPN11 NF1 KRAS HRAS
11 rhabdomyosarcoma 31.3 SOS1 PTPN11 NRAS NF1 MAP2K1 KRAS
12 juvenile myelomonocytic leukemia 31.3 SPRED1 SOS2 SOS1 RRAS RIT1 RAF1
13 lentigines 31.2 RAF1 PTPN11 BRAF
14 noonan syndrome-like disorder with loose anagen hair 2 31.1 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
15 neurofibromatosis, type i 31.0 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NRAS
16 noonan syndrome-like disorder with loose anagen hair 1 31.0 SHOC2 PTPN11 KRAS HRAS
17 nevus, epidermal 31.0 NRAS NF1 KRAS HRAS
18 pulmonic stenosis 30.9 SOS1 NF1 BRAF
19 myeloid leukemia 30.9 RAF1 PTPN11 NRAS MAP2K1 KRAS HRAS
20 noonan syndrome 3 30.8 SOS1 RAF1 PTPN11 KRAS HRAS
21 myelodysplastic/myeloproliferative neoplasm 30.8 PTPN11 NRAS NF1 HRAS CBL
22 hypertelorism 30.8 RIT1 RAF1 PTPN11 LZTR1 BRAF
23 chronic myelomonocytic leukemia 30.8 PTPN11 NRAS NF1 KRAS CBL
24 embryonal rhabdomyosarcoma 30.8 SOS1 PTPN11 KRAS HRAS
25 oculoectodermal syndrome 30.7 NRAS KRAS HRAS
26 ras-associated autoimmune leukoproliferative disorder 30.7 NRAS KRAS HRAS
27 schimmelpenning-feuerstein-mims syndrome 30.7 NRAS KRAS HRAS
28 ptosis 30.7 SOS1 SHOC2 PTPN11 CBL
29 arteriovenous malformation 30.6 MAP2K1 KRAS HRAS
30 pyogenic granuloma 30.5 NRAS KRAS
31 syringocystadenoma papilliferum 30.5 KRAS BRAF
32 pulmonary valve stenosis 10.9 SOS2 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
33 leukemia 10.8 RAF1 PTPN11 NRAS NF1 KRAS HRAS
34 pilocytic astrocytoma 10.8 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
35 gastric adenocarcinoma 10.8 RAF1 PTPN11 NRAS MAP2K2 MAP2K1 KRAS
36 leukemia, chronic myeloid 10.8 RAF1 PTPN11 NRAS NF1 KRAS HRAS
37 lung cancer susceptibility 3 10.8 SOS1 RAF1 PTPN11 NRAS MAP2K1 KRAS
38 skin melanoma 10.8 RAF1 NRAS NF1 MAP2K2 MAP2K1 KRAS
39 skin carcinoma 10.8 RAF1 NRAS NF1 MAP2K2 MAP2K1 KRAS
40 skin granular cell tumor 10.8 SPRED1 SOS1 SHOC2 PTPN11 NF1 MAP2K2
41 pulmonary valve disease 10.8 SOS2 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
42 adenocarcinoma 10.8 SOS1 RAF1 MAP2K1 KRAS HRAS BRAF
43 leukemia, acute myeloid 10.8 PTPN11 NRAS NF1 MAP2K1 KRAS HRAS
44 melanoma, cutaneous malignant 1 10.8 RAF1 NRAS NF1 MAP2K1 HRAS BRAF
45 plasma cell neoplasm 10.8 PTPN11 NRAS NF1 KRAS HRAS BRAF
46 melanoma, uveal 10.8 RAF1 NRAS NF1 MAP2K1 HRAS BRAF
47 noonan syndrome and noonan-related syndrome 10.8 SOS1 RAF1 PTPN11 MAP2K2 BRAF
48 myeloma, multiple 10.8 PTPN11 NRAS NF1 KRAS HRAS BRAF
49 acneiform dermatitis 10.8 NRAS MAP2K1 KRAS HRAS BRAF
50 sarcoma 10.8 RAF1 NRAS KRAS HRAS BRAF

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 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.52 CBL HRAS KRAS BRAF
2 Decreased viability GR00055-A-2 10.52 CBL HRAS KRAS BRAF
3 Decreased viability GR00055-A-3 10.52 KRAS
4 Decreased viability GR00106-A-0 10.52 KRAS
5 Decreased viability GR00221-A-1 10.52 HRAS KRAS NF1 RAF1 NRAS
6 Decreased viability GR00221-A-2 10.52 CBL HRAS KRAS NF1 RAF1
7 Decreased viability GR00221-A-3 10.52 CBL HRAS NRAS
8 Decreased viability GR00221-A-4 10.52 NF1 BRAF
9 Decreased viability GR00249-S 10.52 NF1 BRAF
10 Decreased viability GR00301-A 10.52 KRAS RAF1 BRAF
11 Decreased viability GR00381-A-1 10.52 KRAS BRAF
12 Decreased viability GR00386-A-1 10.52 NF1
13 Decreased viability GR00402-S-2 10.52 RAF1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.33 SOS1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.33 BRAF
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.33 CBL
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.33 PTPN11
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.33 SOS1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.33 PTPN11
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.33 CBL
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.33 PTPN11
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.33 CBL
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.33 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.33 PTPN11 RAF1 SOS1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.33 RAF1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.33 BRAF
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.33 BRAF
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.33 PTPN11
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.33 BRAF
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.33 SOS1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.33 RAF1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.33 BRAF
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.33 BRAF
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.33 BRAF
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.33 PTPN11
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.33 CBL
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.33 CBL
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.33 PTPN11
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.33 SOS1
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.33 BRAF
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 10.33 NF1
42 Decreased cell migration GR00055-A-1 9.91 SOS1 MAP2K2
43 Decreased cell migration GR00055-A-3 9.91 BRAF CBL HRAS
44 Reduced mammosphere formation GR00396-S 9.28 BRAF HRAS KRAS NRAS PPP1CB PTPN11

MGI Mouse Phenotypes related to Rasopathy:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.47 BRAF CBL HRAS KRAS LZTR1 MAP2K1
2 growth/size/body region MP:0005378 10.45 BBIP1 BRAF CBL HRAS KRAS LZTR1
3 craniofacial MP:0005382 10.43 BRAF CBL HRAS KRAS LZTR1 MAP2K1
4 homeostasis/metabolism MP:0005376 10.39 BRAF CBL HRAS KRAS LZTR1 MAP2K1
5 behavior/neurological MP:0005386 10.38 BBIP1 BRAF CBL HRAS KRAS MAP2K2
6 cellular MP:0005384 10.37 BRAF CBL KRAS LZTR1 MAP2K1 MAP2K2
7 hematopoietic system MP:0005397 10.34 BRAF CBL KRAS LZTR1 MRAS NF1
8 mortality/aging MP:0010768 10.34 BBIP1 BRAF CBL HRAS KRAS LZTR1
9 endocrine/exocrine gland MP:0005379 10.3 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
10 digestive/alimentary MP:0005381 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11 immune system MP:0005387 10.27 BRAF CBL KRAS MRAS NF1 NRAS
12 integument MP:0010771 10.26 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
13 embryo MP:0005380 10.22 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
14 hearing/vestibular/ear MP:0005377 10.14 BRAF CBL KRAS MAP2K1 MAP2K2 NF1
15 normal MP:0002873 10.1 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
16 neoplasm MP:0002006 10.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
17 muscle MP:0005369 10.06 BRAF CBL HRAS KRAS LZTR1 NF1
18 limbs/digits/tail MP:0005371 10 BRAF CBL KRAS NF1 NRAS PTPN11
19 respiratory system MP:0005388 9.81 BRAF CBL HRAS KRAS NF1 PTPN11
20 pigmentation MP:0001186 9.73 BRAF CBL KRAS NF1 NRAS PTPN11
21 skeleton MP:0005390 9.73 BRAF CBL HRAS KRAS LZTR1 MAP2K1
22 vision/eye MP:0005391 9.4 BBIP1 BRAF CBL KRAS MAP2K1 MAP2K2

Drugs & Therapeutics for Rasopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
2 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
Brain, Heart, Cortex, Spinal Cord, Skin, Myeloid, Tongue

Publications for Rasopathy

Articles related to Rasopathy:

(show top 50) (show all 227)
# Title Authors PMID Year
1
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders. 61
33354767 2021
2
Senescence in RASopathies, a possible novel contributor to a complex pathophenoype. 61
33309600 2021
3
MEK inhibitors in RASopathies. 61
33395032 2021
4
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. 61
33522658 2021
5
The ERK mitogen-activated protein kinase signaling network: the final frontier in RAS signal transduction. 61
33544118 2021
6
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. 61
33568805 2021
7
A Leucine Rich Repeat Protein Provides a SHOC2 the RAS Circuit: A Structure-Function Perspective. 61
33526449 2021
8
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights. 61
33538228 2021
9
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations. 61
32989268 2021
10
Chiari I malformation in patients with RASopathies. 61
33409618 2021
11
Myelomonocytic skewing in chronic myelomonocytic leukemia: phenotypic, molecular and biologic features and impact on survival. 61
33432601 2021
12
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype? 61
33078527 2021
13
Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes. 61
33275756 2020
14
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. 61
33337535 2020
15
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department. 61
32501579 2020
16
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia. 61
33224014 2020
17
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. 61
32499600 2020
18
RASopathies: A significant cause of polyhydramnios? 61
33150592 2020
19
KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice. 61
32990679 2020
20
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. 61
33051312 2020
21
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. 61
33082526 2020
22
Clinical and molecular spectra of BRAF-associated RASopathy. 61
33040082 2020
23
Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes. 61
32938917 2020
24
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. 61
32721402 2020
25
Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies. 61
32815881 2020
26
Preventative Effect of Mebendazole against Malignancies in Neurofibromatosis 1. 61
32650362 2020
27
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 61
31108500 2020
28
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts. 61
32240795 2020
29
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
30
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R. 61
32187889 2020
31
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. 61
32460983 2020
32
Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy. 61
32388560 2020
33
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
34
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
35
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. 61
32107864 2020
36
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2020
37
Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency. 61
31115076 2020
38
Increased nuchal translucency: diagnostic value of RASopathy-disorder testing. 61
32115807 2020
39
The sixth international RASopathies symposium: Precision medicine-From promise to practice. 61
31825160 2020
40
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2020
41
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
42
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
43
Autism Spectrum Disorder Symptom Profile Across the RASopathies. 61
33519543 2020
44
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
45
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer. 61
31836666 2020
46
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
47
[Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium]. 61
31821386 2019
48
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels. 61
31783775 2019
49
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
50
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019

Variations for Rasopathy

ClinVar genetic disease variations for Rasopathy:

6 (show top 50) (show all 1195)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBL NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) Deletion Pathogenic 40404 rs397507490 11:119148532-119148543 11:119277822-119277833
2 CBL NM_005188.3(CBL):c.1227+2_1227+4delinsAAG Indel Pathogenic 40407 rs397507493 11:119149009-119149011 11:119278299-119278301
3 CBL NM_005188.2:c.1227+2_1227+3delTACinsAAG Insertion Pathogenic 180826
4 MAP2K1 NM_002755.3(MAP2K1):c.383_384delinsTT (p.Gly128Val) Indel Pathogenic 40745 rs730880508 15:66729175-66729176 15:66436837-66436838
5 NRAS NM_002524.5(NRAS):c.112-1_113dup Duplication Pathogenic 40472 rs730880967 1:115256597-115256598 1:114713976-114713977
6 SOS1 NM_005633.3(SOS1):c.1300_1301delinsAA (p.Gly434Lys) Indel Pathogenic 40671 rs730881048 2:39250268-39250269 2:39023127-39023128
7 KRAS NM_033360.4(KRAS):c.64C>G (p.Gln22Glu) SNV Pathogenic 40451 rs121913236 12:25398255-25398255 12:25245321-25245321
8 CBL NM_005188.3(CBL):c.1111T>C (p.Tyr371His) SNV Pathogenic 13811 rs267606706 11:119148891-119148891 11:119278181-119278181
9 MAP2K2 NM_030662.3(MAP2K2):c.171T>A (p.Phe57Leu) SNV Pathogenic 578970 rs1057519910 19:4117549-4117549 19:4117551-4117551
10 CBL NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) SNV Pathogenic 13807 rs267606704 11:119148880-119148880 11:119278170-119278170
11 SOS1 NM_005633.3(SOS1):c.1300G>C (p.Gly434Arg) SNV Pathogenic 40670 rs397517148 2:39250269-39250269 2:39023128-39023128
12 MAP2K1 NM_002755.3(MAP2K1):c.332T>A (p.Ile111Asn) SNV Pathogenic 376194 rs1057519730 15:66729124-66729124 15:66436786-66436786
13 BRAF NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) SNV Pathogenic 180789 rs121913341 7:140453150-140453150 7:140753350-140753350
14 RAF1 NM_001354689.3(RAF1):c.775T>G (p.Ser259Ala) SNV Pathogenic 504514 rs3730271 3:12645694-12645694 3:12604195-12604195
15 PTPN11 NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) Indel Pathogenic 40492 rs397507508 12:112888163-112888166 12:112450359-112450362
16 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic 40495 rs397507510 12:112888165-112888165 12:112450361-112450361
17 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394
18 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
19 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
20 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 12:112888212-112888212 12:112450408-112450408
21 PTPN11 NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) SNV Pathogenic 40506 rs397507517 12:112888301-112888301 12:112450497-112450497
22 BRAF NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) SNV Pathogenic 13964 rs121913348 7:140481417-140481417 7:140781617-140781617
23 BRAF NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) SNV Pathogenic 13977 rs180177038 7:140477807-140477807 7:140778007-140778007
24 PTPN11 NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) SNV Pathogenic 40518 rs397507523 12:112910758-112910758 12:112472954-112472954
25 PTPN11 NM_002834.5(PTPN11):c.768_770dup Microsatellite Pathogenic 40519 rs397507524 12:112910752-112910753 12:112472948-112472949
26 PTPN11 NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) SNV Pathogenic 40533 rs121918463 12:112915455-112915455 12:112477651-112477651
27 PTPN11 NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) SNV Pathogenic 40550 rs397507539 12:112926851-112926851 12:112489047-112489047
28 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic 40552 rs397507540 12:112926852-112926852 12:112489048-112489048
29 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
30 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083
31 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic 40563 rs397507548 12:112926897-112926897 12:112489093-112489093
32 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 12:112926908-112926908 12:112489104-112489104
33 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 12:112926909-112926909 12:112489105-112489105
34 PTPN11 NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) Indel Pathogenic 55799 rs397509345 12:112926897-112926898 12:112489093-112489094
35 RAF1 NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) SNV Pathogenic 40604 rs121434594 3:12645688-12645688 3:12604189-12604189
36 HRAS NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12612 rs104894230 11:534288-534288 11:534288-534288
37 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 2:39249913-39249913 2:39022772-39022772
38 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211
39 MAP2K2 NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) SNV Pathogenic 30170 rs387906800 19:4110562-4110562 19:4110564-4110564
40 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) SNV Pathogenic 40512 rs397507520 12:112891083-112891083 12:112453279-112453279
41 PTPN11 NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala) SNV Pathogenic 162464 rs397507546 12:112926888-112926888 12:112489084-112489084
42 PTPN11 NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) SNV Pathogenic 177754 rs121918453 12:112888198-112888198 12:112450394-112450394
43 BRAF NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) SNV Pathogenic 177844 rs180177036 7:140477853-140477853 7:140778053-140778053
44 CBL NM_005188.3(CBL):c.1096-4_1096-1del Deletion Pathogenic 45197 rs397517077 11:119148872-119148875 11:119278162-119278165
45 HRAS NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) Indel Pathogenic 180854 rs727503094 11:534287-534288 11:534287-534288
46 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
47 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 3:12626123-12626123 3:12584624-12584624
48 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774
49 BRAF NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) SNV Pathogenic 29808 rs606231228 7:140476813-140476813 7:140777013-140777013
50 RAF1 NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) SNV Pathogenic 40603 rs397516827 3:12645693-12645693 3:12604194-12604194

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
Show member pathways
14.39 SPRED1 SOS2 SOS1 RIT1 RAF1 PTPN11
2
Show member pathways
14.21 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
3
Show member pathways
14.08 SOS2 SOS1 RRAS RAF1 NRAS NF1
4
Show member pathways
14.07 SOS2 SOS1 RRAS RAF1 PPP1CB NRAS
5
Show member pathways
13.99 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
6
Show member pathways
13.93 SOS1 RAF1 PTPN11 NRAS NF1 MAP2K2
7
Show member pathways
13.93 SOS2 SOS1 RRAS RAF1 NRAS MRAS
8
Show member pathways
13.9 SOS2 SOS1 RRAS RAF1 NRAS MRAS
9
Show member pathways
13.83 SOS2 SOS1 RRAS RAF1 PTPN11 NRAS
10
Show member pathways
13.81 SOS2 SOS1 RRAS RAF1 NRAS MRAS
11
Show member pathways
13.79 SPRED1 SOS2 SOS1 RRAS RAF1 PTPN11
12
Show member pathways
13.7 SOS2 SOS1 RRAS RAF1 PPP1CB NRAS
13
Show member pathways
13.66 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
14
Show member pathways
13.61 SOS2 SOS1 RRAS RAF1 PPP1CB NRAS
15
Show member pathways
13.59 SOS2 SOS1 RRAS RAF1 NRAS MRAS
16
Show member pathways
13.59 SOS2 SOS1 RRAS RAF1 NRAS MRAS
17
Show member pathways
13.53 SOS2 SOS1 RRAS RAF1 NRAS MRAS
18
Show member pathways
13.46 RRAS PTPN11 PPP1CB NRAS MRAS KRAS
19
Show member pathways
13.38 SOS2 SOS1 RRAS RAF1 PPP1CB NRAS
20
Show member pathways
13.36 SOS2 SOS1 RRAS RAF1 NRAS MRAS
21
Show member pathways
13.36 SOS2 SOS1 RRAS RAF1 NRAS MRAS
22
Show member pathways
13.34 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
23
Show member pathways
13.34 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
24
Show member pathways
13.25 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
25
Show member pathways
13.25 SOS2 SOS1 RRAS RAF1 NRAS MRAS
26
Show member pathways
13.23 RRAS PTPN11 PPP1CB NRAS KRAS HRAS
27
Show member pathways
13.23 RRAS RAF1 NRAS MRAS MAP2K2 MAP2K1
28
Show member pathways
13.22 SOS2 SOS1 RRAS RAF1 NRAS MRAS
29
Show member pathways
13.22 SOS2 SOS1 RAF1 PTPN11 PPP1CB NRAS
30
Show member pathways
13.21 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
31
Show member pathways
13.21 SOS2 SOS1 RRAS RAF1 PPP1CB NRAS
32
Show member pathways
13.2 SOS2 SOS1 RRAS RAF1 NRAS MRAS
33
Show member pathways
13.2 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
34 13.18 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
35
Show member pathways
13.18 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
36
Show member pathways
13.14 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
37
Show member pathways
13.12 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
38
Show member pathways
13.09 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
39
Show member pathways
13.09 SOS2 SOS1 RRAS RAF1 NRAS MRAS
40 13.06 SOS2 SOS1 RRAS RAF1 NRAS NF1
41
Show member pathways
13.05 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
42
Show member pathways
13.01 RRAS RAF1 NRAS MRAS MAP2K2 MAP2K1
43
Show member pathways
13 SOS2 SOS1 RAF1 NRAS NF1 MAP2K2
44
Show member pathways
12.99 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
45
Show member pathways
12.99 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
46
Show member pathways
12.98 SOS1 PTPN11 NRAS KRAS HRAS
47
Show member pathways
12.96 RRAS RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
48
Show member pathways
12.95 SOS1 PTPN11 NRAS KRAS HRAS CBL
49
Show member pathways
12.94 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
50
Show member pathways
12.94 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS

GO Terms for Rasopathy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.17 SPRED1 SOS1 SHOC2 RAF1 PTPN11 PPP1CB
2 plasma membrane GO:0005886 9.97 SPRED1 SOS1 RRAS RIT1 RAF1 PPP1CB
3 Golgi apparatus GO:0005794 9.8 RAF1 NRAS MAP2K2 MAP2K1 LZTR1 HRAS
4 cytosol GO:0005829 9.5 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
5 focal adhesion GO:0005925 9.43 RRAS PPP1CB MAP2K2 MAP2K1 KRAS CBL

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 SOS1 SHOC2 RRAS RIT1 RAF1 NRAS
2 heart development GO:0007507 9.92 RAF1 PTPN11 NF1 MAP2K1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 PTPN11 MAP2K1 HRAS BRAF
4 liver development GO:0001889 9.81 NF1 KRAS HRAS
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.78 RAF1 NRAS KRAS HRAS
6 thymus development GO:0048538 9.72 RAF1 MAP2K1 BRAF
7 visual learning GO:0008542 9.71 NF1 KRAS BRAF
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 SPRED1 SHOC2 PTPN11 CBL
9 MAPK cascade GO:0000165 9.65 SPRED1 SOS1 RAF1 NRAS NF1 MAP2K2
10 regulation of T cell proliferation GO:0042129 9.64 SOS2 SOS1
11 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.63 MAP2K2 MAP2K1
12 regulation of stress-activated MAPK cascade GO:0032872 9.62 MAP2K2 MAP2K1
13 Bergmann glial cell differentiation GO:0060020 9.61 PTPN11 MAP2K1
14 lymphocyte homeostasis GO:0002260 9.61 SOS2 SOS1
15 thyroid gland development GO:0030878 9.61 RAF1 MAP2K1 BRAF
16 regulation of early endosome to late endosome transport GO:2000641 9.59 MAP2K2 MAP2K1
17 response to isolation stress GO:0035900 9.58 KRAS HRAS
18 positive regulation of small GTPase mediated signal transduction GO:0051057 9.58 SOS2 SOS1
19 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SOS1 RAF1 PTPN11
20 regulation of axon regeneration GO:0048679 9.57 MAP2K1 BRAF
21 regulation of T cell differentiation in thymus GO:0033081 9.56 SOS2 SOS1
22 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
23 regulation of pro-B cell differentiation GO:2000973 9.52 SOS2 SOS1
24 regulation of Golgi inheritance GO:0090170 9.51 MAP2K2 MAP2K1
25 face development GO:0060324 9.5 RAF1 MAP2K1 BRAF
26 cerebellar cortex formation GO:0021697 9.49 PTPN11 MAP2K1
27 forebrain astrocyte development GO:0021897 9.46 NF1 KRAS
28 Ras protein signal transduction GO:0007265 9.28 SOS1 SHOC2 RRAS RIT1 NRAS NF1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.37 SPRED1 SOS2 SOS1 SHOC2 RRAS RIT1
2 hydrolase activity GO:0016787 10.03 RRAS RIT1 PTPN11 PPP1CB NRAS MRAS
3 nucleotide binding GO:0000166 9.85 RRAS RIT1 RAF1 NRAS MRAS MAP2K2
4 protein-containing complex binding GO:0044877 9.8 RRAS RAF1 NRAS KRAS HRAS BRAF
5 GTP binding GO:0005525 9.73 RRAS RIT1 NRAS MRAS KRAS HRAS
6 scaffold protein binding GO:0097110 9.58 MAP2K2 MAP2K1 BRAF
7 mitogen-activated protein kinase kinase binding GO:0031434 9.48 RAF1 BRAF
8 MAP-kinase scaffold activity GO:0005078 9.46 MAP2K2 MAP2K1
9 GTPase activity GO:0003924 9.43 RRAS RIT1 NRAS MRAS KRAS HRAS
10 GDP binding GO:0019003 9.1 RRAS RIT1 NRAS MRAS KRAS HRAS

Sources for Rasopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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