MCID: RSP023
MIFTS: 54

Rasopathy

Categories: Rare diseases
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Aliases & Classifications for Rasopathy

MalaCards integrated aliases for Rasopathy:

Name: Rasopathy 11 58 28 5 14 16 75
Ras/mitogen-Activated Protein Kinase Syndrome 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0080690
Orphanet 58 ORPHA536391

Summaries for Rasopathy

Disease Ontology: 11 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 costello syndrome and noonan syndrome 1. An important gene associated with Rasopathy is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are ERK Signaling and Disease. Affiliated tissues include myeloid, heart and spinal cord, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)

Wikipedia: 75 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 costello syndrome 33.1 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
2 noonan syndrome 1 33.1 U2AF1 SPRED1 SOS2 SOS1 SHOC2 RIT1
3 noonan syndrome with multiple lentigines 33.1 SPRED1 SOS2 SOS1 SHOC2 RIT1 RAF1
4 cardiofaciocutaneous syndrome 1 33.0 SPRED1 SOS2 SOS1 SHOC2 RIT1 RAF1
5 neurofibromatosis-noonan syndrome 32.8 SPRED1 SOS2 SOS1 SHOC2 PTPN11 NF1
6 noonan syndrome-like disorder with loose anagen hair 32.6 SPRED1 SOS2 SOS1 SHOC2 PTPN11 MAP2K1
7 legius syndrome 32.5 SPRED1 NF1 HRAS
8 neurofibromatosis 31.7 SPRED1 SOS1 PTPN11 NRAS NF1 LZTR1
9 hypertrophic cardiomyopathy 31.7 SOS2 SOS1 SHOC2 RIT1 RAF1 PTPN11
10 neurofibromatosis, type i 31.7 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
11 pseudo-turner syndrome 31.6 SOS2 SOS1 SHOC2 RIT1 RAF1 PTPN11
12 rhabdomyosarcoma 31.4 SOS1 PTPN11 NRAS NF1 MAP2K2 MAP2K1
13 juvenile myelomonocytic leukemia 31.3 U2AF1 SPRED1 SOS2 SOS1 SHOC2 RIT1
14 lentigines 31.1 RAF1 PTPN11 BRAF
15 schimmelpenning-feuerstein-mims syndrome 31.1 SOS1 NRAS NF1 LRRC56 KRAS HRAS
16 pulmonic stenosis 31.1 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
17 noonan syndrome and noonan-related syndrome 31.0 SPRED1 SOS1 SHOC2 RIT1 RAF1 PTPN11
18 leukemia, acute myeloid 31.0 U2AF1 PTPN11 NRAS NF1 MAP2K1 LRRC56
19 melanocytic nevus syndrome, congenital 31.0 NRAS LRRC56 HRAS
20 noonan syndrome 3 31.0 SOS1 RAF1 PTPN11 LRRC56 KRAS HRAS
21 nevus, epidermal 30.9 NRAS NF1 LRRC56 KRAS HRAS
22 noonan syndrome-like disorder with loose anagen hair 1 30.9 SHOC2 PTPN11 KRAS HRAS
23 wilms tumor 1 30.9 U2AF1 NF1 KRAS HRAS BRAF
24 melanoma in congenital melanocytic nevus 30.9 RAF1 NRAS HRAS BRAF
25 melanoma 30.9 SOS1 RAF1 NRAS NF1 MAP2K2 MAP2K1
26 breast cancer 30.9 SOS1 RAF1 PTPN11 NRAS NF1 MIR499A
27 ras-associated autoimmune leukoproliferative disorder 30.8 NRAS KRAS HRAS
28 leukemia 30.8 U2AF1 RAF1 PTPN11 NRAS NF1 BRAF
29 myelodysplastic/myeloproliferative neoplasm 30.7 U2AF1 SOS1 PTPN11 NRAS NF1 HRAS
30 chronic myelomonocytic leukemia 30.7 U2AF1 PTPN11 NRAS NF1 KRAS HRAS
31 arteriovenous malformation 30.7 NF1 MAP2K1 LRRC56 HRAS BRAF
32 myeloproliferative neoplasm 30.7 U2AF1 PTPN11 NF1 HRAS
33 lymphangioma 30.6 KRAS HRAS BRAF
34 li-fraumeni syndrome 30.6 U2AF1 NF1 KRAS HRAS
35 ptosis 30.6 SOS1 SHOC2 PTPN11 CBL
36 cutaneous-skeletal hypophosphatemia syndrome 30.6 LRRC56 HRAS
37 syringocystadenoma papilliferum 30.4 HRAS BRAF
38 capillary malformation-arteriovenous malformation 1 30.3 MAP2K1 KRAS
39 noonan syndrome 14 10.9
40 lung cancer susceptibility 3 10.8 U2AF1 SOS1 RAF1 PTPN11 NRAS MAP2K1
41 skin melanoma 10.8 U2AF1 RAF1 NRAS MAP2K2 MAP2K1 LRRC56
42 gastric adenocarcinoma 10.8 RAF1 PTPN11 NRAS MAP2K2 MAP2K1 LRRC56
43 leukemia, chronic myeloid 10.8 U2AF1 RAF1 PTPN11 NRAS NF1 KRAS
44 glioblastoma 10.8 RAF1 NRAS NF1 MAP2K1 LRRC56 KRAS
45 pulmonary valve stenosis 10.8 SPRED1 SOS2 SOS1 SHOC2 PTPN11 MIR499A
46 pulmonary valve disease 10.8 SPRED1 SOS2 SOS1 SHOC2 PTPN11 MIR499A
47 pilocytic astrocytoma 10.8 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
48 plasma cell neoplasm 10.8 U2AF1 PTPN11 NRAS NF1 LRRC56 KRAS
49 gastrointestinal stromal tumor 10.8 U2AF1 RAF1 NRAS NF1 MAP2K1 KRAS
50 myeloma, multiple 10.8 U2AF1 PTPN11 NRAS NF1 LRRC56 KRAS

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:

25 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.82 CBL HRAS KRAS BRAF
2 Decreased viability GR00055-A-2 10.82 CBL HRAS KRAS BRAF
3 Decreased viability GR00055-A-3 10.82 KRAS
4 Decreased viability GR00106-A-0 10.82 KRAS
5 Decreased viability GR00221-A-1 10.82 HRAS KRAS NF1 RAF1 NRAS
6 Decreased viability GR00221-A-2 10.82 CBL HRAS KRAS NF1 RAF1
7 Decreased viability GR00221-A-3 10.82 CBL HRAS NRAS
8 Decreased viability GR00221-A-4 10.82 NF1 BRAF
9 Decreased viability GR00249-S 10.82 NF1 BRAF
10 Decreased viability GR00301-A 10.82 KRAS RAF1 BRAF
11 Decreased viability GR00381-A-1 10.82 KRAS BRAF
12 Decreased viability GR00386-A-1 10.82 NF1
13 Decreased viability GR00402-S-2 10.82 RAF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.15 NF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.15 NF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.15 RAF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.15 SOS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.15 CBL SOS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.15 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.15 BRAF CBL NF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.15 RAF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 CBL RAF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.15 CBL
24 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.15 SOS1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.15 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.15 CBL
27 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.15 CBL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.15 CBL NF1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.15 CBL
30 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.15 NF1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.15 BRAF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 RAF1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.15 SOS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.15 PTPN11
35 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.15 RAF1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.15 NF1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.15 PTPN11
38 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.15 CBL
39 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.15 SOS1
40 Increased cell migration GR00055-A-1 9.46 NF1
41 Increased cell migration GR00055-A-3 9.46 NF1
42 Reduced mammosphere formation GR00396-S 9.23 BRAF HRAS KRAS NRAS PTPN11 SHOC2

MGI Mouse Phenotypes related to Rasopathy:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 BRAF CBL HRAS KRAS LRRC56 MAP2K1
2 growth/size/body region MP:0005378 10.45 BRAF CBL HRAS KRAS LRRC56 LZTR1
3 normal MP:0002873 10.4 BRAF HRAS KRAS MAP2K1 MAP2K2 MIR499A
4 cardiovascular system MP:0005385 10.39 BRAF CBL HRAS KRAS LRRC56 LZTR1
5 craniofacial MP:0005382 10.34 BRAF CBL HRAS KRAS LZTR1 MAP2K1
6 endocrine/exocrine gland MP:0005379 10.31 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
7 neoplasm MP:0002006 10.3 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
8 muscle MP:0005369 10.28 BRAF CBL HRAS KRAS LZTR1 MIR499A
9 hearing/vestibular/ear MP:0005377 10.26 BRAF CBL KRAS MAP2K1 MAP2K2 NF1
10 cellular MP:0005384 10.26 BRAF CBL KRAS LZTR1 MAP2K1 MAP2K2
11 immune system MP:0005387 10.25 BRAF CBL KRAS LRRC56 MRAS NF1
12 digestive/alimentary MP:0005381 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
13 embryo MP:0005380 10.18 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
14 pigmentation MP:0001186 10.15 BRAF CBL KRAS NF1 NRAS PTPN11
15 skeleton MP:0005390 10.13 BRAF CBL HRAS KRAS LZTR1 MAP2K1
16 limbs/digits/tail MP:0005371 10.12 BRAF CBL KRAS NF1 NRAS PTPN11
17 respiratory system MP:0005388 10.1 BRAF CBL HRAS KRAS LRRC56 NF1
18 reproductive system MP:0005389 10.07 BRAF CBL KRAS LRRC56 MAP2K1 MAP2K2
19 vision/eye MP:0005391 10.03 BRAF KRAS MAP2K1 MAP2K2 NF1 NRAS
20 hematopoietic system MP:0005397 9.97 BRAF CBL KRAS LZTR1 MRAS NF1
21 mortality/aging MP:0010768 9.86 BRAF CBL HRAS KRAS LRRC56 LZTR1
22 integument MP:0010771 9.5 BRAF CBL HRAS KRAS LRRC56 MAP2K1

Drugs & Therapeutics for Rasopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
2 Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial Recruiting NCT05361811
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 28

Anatomical Context for Rasopathy

Organs/tissues related to Rasopathy:

MalaCards : Myeloid, Heart, Spinal Cord, Brain, B Cells, Lung, Tongue

Publications for Rasopathy

Articles related to Rasopathy:

(show top 50) (show all 679)
# Title Authors PMID Year
1
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules. 62 5
31573083 2020
2
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 62 5
31825158 2020
3
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 62 5
31560489 2019
4
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 62 5
31040167 2019
5
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 62 5
30481304 2019
6
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. 62 5
30732632 2019
7
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 62 5
29493581 2018
8
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 62 5
28650561 2017
9
Genotype and phenotype spectrum of NRAS germline variants. 62 5
28594414 2017
10
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 62 5
27101134 2016
11
Expansion of the RASopathies. 62 5
27942422 2016
12
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 62 5
26714497 2016
13
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 62 5
26607044 2016
14
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 62 5
26173643 2015
15
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 62 5
25808193 2015
16
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 62 5
25358541 2015
17
Next-generation sequencing identifies rare variants associated with Noonan syndrome. 62 5
25049390 2014
18
Clinical and Molecular Findings of Tunisian Patients with RASopathies. 62 5
25337068 2014
19
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 62 5
24803665 2014
20
Behavioral profile in RASopathies. 62 5
24458522 2014
21
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. 62 5
23786871 2013
22
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 62 5
23791108 2013
23
NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 62 5
23487764 2013
24
Clinical and molecular analysis of RASopathies in a group of Turkish patients. 62 5
22420426 2013
25
Atrioventricular canal defect in patients with RASopathies. 62 5
22781091 2013
26
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 62 5
22585553 2012
27
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 62 5
22488759 2012
28
RASopathies: Clinical Diagnosis in the First Year of Life. 62 5
22190897 2011
29
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review. 62 5
21495179 2011
30
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 62 5
22681964 2011
31
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. 62 5
21339643 2011
32
The RAS GTPase RIT1 compromises mitotic fidelity through spindle assembly checkpoint suppression. 5
34237269 2021
33
Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines. 5
33318624 2021
34
Whole exome sequencing of fetal structural anomalies detected by ultrasonography. 5
33144663 2021
35
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study. 5
33587123 2021
36
The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia. 5
32561839 2021
37
Mutation and Phenotypic Spectrum of Patients With RASopathies. 5
33452774 2021
38
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. 5
32788663 2021
39
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. 5
33258288 2020
40
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. 5
32627857 2020
41
The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants. 5
32794475 2020
42
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark. 5
32304219 2020
43
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. 5
31827275 2020
44
Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome. 5
32078254 2020
45
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 5
32164556 2020
46
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. 5
31292302 2019
47
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 5
31219622 2019
48
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 5
31145547 2019
49
Segmental schwannomatosis: characteristics in 12 patients. 5
31438995 2019
50
Coexistence of schwannomatosis and glioblastoma in two families. 5
31128261 2019

Variations for Rasopathy

ClinVar genetic disease variations for Rasopathy:

5 (show top 50) (show all 3123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBL NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del) DEL Pathogenic
40404 rs397507490 GRCh37: 11:119148532-119148543
GRCh38: 11:119277822-119277833
2 CBL NM_005188.4(CBL):c.1227+2_1227+4delinsAAG INDEL Pathogenic
40407 rs397507493 GRCh37: 11:119149009-119149011
GRCh38: 11:119278299-119278301
3 PTPN11 NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) INDEL Pathogenic
40492 rs397507508 GRCh37: 12:112888163-112888166
GRCh38: 12:112450359-112450362
4 PTPN11 NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) INDEL Pathogenic
55799 rs397509345 GRCh37: 12:112926897-112926898
GRCh38: 12:112489093-112489094
5 PTPN11 NM_002834.5(PTPN11):c.1508G>C (p.Gly503Ala) SNV Pathogenic
162464 rs397507546 GRCh37: 12:112926888-112926888
GRCh38: 12:112489084-112489084
6 CBL NM_005188.4(CBL):c.1096-4_1096-1del DEL Pathogenic
45197 rs397517077 GRCh37: 11:119148872-119148875
GRCh38: 11:119278162-119278165
7 CBL NM_005188.2:c.1227+2_1227+3delTACinsAAG INSERT Pathogenic
180826 GRCh37:
GRCh38:
8 MAP2K1 NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) INDEL Pathogenic
40745 rs730880508 GRCh37: 15:66729175-66729176
GRCh38: 15:66436837-66436838
9 NRAS NM_002524.5(NRAS):c.112-1_113dup DUP Pathogenic
40472 rs730880967 GRCh37: 1:115256597-115256598
GRCh38: 1:114713976-114713977
10 PTPN11 NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) SNV Pathogenic
44603 rs397516801 GRCh37: 12:112888193-112888193
GRCh38: 12:112450389-112450389
11 SOS1 NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys) INDEL Pathogenic
40671 rs730881048 GRCh37: 2:39250268-39250269
GRCh38: 2:39023127-39023128
12 PTPN11 NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) SNV Pathogenic
40521 rs397507526 GRCh37: 12:112910776-112910776
GRCh38: 12:112472972-112472972
13 PTPN11 NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg) INDEL Pathogenic
571101 rs1566186833 GRCh37: 12:112926886-112926887
GRCh38: 12:112489082-112489083
14 PTPN11 NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) SNV Pathogenic
179221 rs121918461 GRCh37: 12:112888166-112888166
GRCh38: 12:112450362-112450362
15 PTPN11 NM_002834.5(PTPN11):c.634_638del (p.Leu212fs) DEL Pathogenic
942066 rs2038127324 GRCh37: 12:112892473-112892477
GRCh38: 12:112454669-112454673
16 PTPN11 NM_002834.5(PTPN11):c.409del (p.Val137fs) DEL Pathogenic
961562 rs2038103354 GRCh37: 12:112891075-112891075
GRCh38: 12:112453271-112453271
17 PTPN11 NM_002834.5(PTPN11):c.1147dup (p.Met383fs) DUP Pathogenic
963962 rs2038606313 GRCh37: 12:112919931-112919932
GRCh38: 12:112482127-112482128
18 RAF1 NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) SNV Pathogenic
504514 rs3730271 GRCh37: 3:12645694-12645694
GRCh38: 3:12604195-12604195
19 RAF1 NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) SNV Pathogenic
44633 rs397516827 GRCh37: 3:12645693-12645693
GRCh38: 3:12604194-12604194
20 SOS1 NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) SNV Pathogenic
40679 rs730881045 GRCh37: 2:39249925-39249925
GRCh38: 2:39022784-39022784
21 PTPN11 NC_000012.11:g.(?_112915449)_(112915825_?)del DEL Pathogenic
1070485 GRCh37: 12:112915449-112915825
GRCh38:
22 PTPN11 NM_002834.5(PTPN11):c.1075G>T (p.Glu359Ter) SNV Pathogenic
1072028 GRCh37: 12:112915802-112915802
GRCh38: 12:112477998-112477998
23 PTPN11 NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) SNV Pathogenic
1367799 GRCh37: 12:112893802-112893802
GRCh38: 12:112455998-112455998
24 PTPN11 NM_002834.5(PTPN11):c.18del (p.Trp6fs) DEL Pathogenic
1435208 GRCh37: 12:112884082-112884082
GRCh38: 12:112446278-112446278
25 PTPN11 NM_002834.5(PTPN11):c.220_221dup (p.Leu74fs) DUP Pathogenic
1374451 GRCh37: 12:112888202-112888203
GRCh38: 12:112450398-112450399
26 PTPN11 NC_000012.11:g.(?_112910728)_(112910864_?)del DEL Pathogenic
1370287 GRCh37: 12:112910728-112910864
GRCh38:
27 CBL NM_005188.4(CBL):c.1096-1G>C SNV Pathogenic
45196 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165
28 PTPN11 NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) SNV Pathogenic
288033 rs886043790 GRCh37: 12:112888159-112888159
GRCh38: 12:112450355-112450355
29 RAF1 NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) SNV Pathogenic
40605 rs121434594 GRCh37: 3:12645688-12645688
GRCh38: 3:12604189-12604189
30 MAP2K1 NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) SNV Pathogenic
280446 rs727504819 GRCh37: 15:66729115-66729115
GRCh38: 15:66436777-66436777
31 PTPN11 NM_002834.5(PTPN11):c.569T>A (p.Leu190Ter) SNV Pathogenic
966477 rs2038125958 GRCh37: 12:112892411-112892411
GRCh38: 12:112454607-112454607
32 CBL NM_005188.4(CBL):c.1096-1G>T SNV Pathogenic
180815 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165
33 PTPN11 NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) SNV Pathogenic
164998 rs727503381 GRCh37: 12:112892440-112892440
GRCh38: 12:112454636-112454636
34 SOS1 NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) SNV Pathogenic
40648 rs730881054 GRCh37: 2:39285906-39285906
GRCh38: 2:39058765-39058765
35 PTPN11 NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) SNV Pathogenic
477670 rs1555267558 GRCh37: 12:112888197-112888197
GRCh38: 12:112450393-112450393
36 SOS1 NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) SNV Pathogenic
12873 rs267607080 GRCh37: 2:39250275-39250275
GRCh38: 2:39023134-39023134
37 RAF1 NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) SNV Pathogenic
40599 rs397516826 GRCh37: 3:12645701-12645701
GRCh38: 3:12604202-12604202
38 MAP2K2 NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) SNV Pathogenic
30170 rs387906800 GRCh37: 19:4110562-4110562
GRCh38: 19:4110564-4110564
39 MAP2K1 NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) SNV Pathogenic
40741 rs730880503 GRCh37: 15:66729147-66729147
GRCh38: 15:66436809-66436809
40 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) SNV Pathogenic
40512 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
41 PTPN11 NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) SNV Pathogenic
40533 rs121918463 GRCh37: 12:112915455-112915455
GRCh38: 12:112477651-112477651
42 MAP2K1 NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) SNV Pathogenic
228273 rs876657651 GRCh37: 15:66729156-66729156
GRCh38: 15:66436818-66436818
43 KRAS NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic
40454 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
44 PTPN11 NM_002834.5(PTPN11):c.172A>C (p.Asn58His) SNV Pathogenic
40486 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
45 RAF1 NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) SNV Pathogenic
40601 rs3730271 GRCh37: 3:12645694-12645694
GRCh38: 3:12604195-12604195
46 RAF1 NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) SNV Pathogenic
40602 rs397516827 GRCh37: 3:12645693-12645693
GRCh38: 3:12604194-12604194
47 CBL NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) SNV Pathogenic
477692 rs1377506801 GRCh37: 11:119148919-119148919
GRCh38: 11:119278209-119278209
48 KRAS NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) SNV Pathogenic
40465 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
49 SOS1 NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) SNV Pathogenic
40680 rs397517153 GRCh37: 2:39249920-39249920
GRCh38: 2:39022779-39022779
50 RAF1 NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) SNV Pathogenic
40618 rs397516815 GRCh37: 3:12627259-12627259
GRCh38: 3:12585760-12585760

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 207)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
2
Show member pathways
14.04 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
3
Show member pathways
14.01 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
4 14.01 SPRED1 SOS2 SOS1 SHOC2 RIT1 RAF1
5
Show member pathways
13.89 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
6
Show member pathways
13.82 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
7
Show member pathways
13.79 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
8
Show member pathways
13.76 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
9
Show member pathways
13.73 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
10
Show member pathways
13.64 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
11
Show member pathways
13.61 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
12
Show member pathways
13.54 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
13
Show member pathways
13.54 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
14
Show member pathways
13.53 SOS2 SOS1 RAF1 NRAS MRAS KRAS
15
Show member pathways
13.5 SOS2 SOS1 PTPN11 NRAS MAP2K1 KRAS
16
Show member pathways
13.46 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
17
Show member pathways
13.34 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
18
Show member pathways
13.31 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
19
Show member pathways
13.2 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
20
Show member pathways
13.2 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
21
Show member pathways
13.18 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
22
Show member pathways
13.17 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
23
Show member pathways
13.16 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
24
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MRAS NRAS
25
Show member pathways
13.13 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
26
Show member pathways
13.13 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
27
Show member pathways
13.12 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
28 13.11 SPRED1 SOS1 RIT1 PTPN11 NRAS MAP2K2
29
Show member pathways
13.08 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
30
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
31
Show member pathways
13.06 SOS2 SOS1 RAF1 NRAS MRAS MAP2K2
32
Show member pathways
13.03 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
33
Show member pathways
13.02 SPRED1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
34
Show member pathways
13.01 SOS1 PTPN11 NRAS KRAS HRAS
35
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
36
Show member pathways
12.98 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
37
Show member pathways
12.97 SHOC2 RAF1 NRAS MRAS MAP2K2 MAP2K1
38
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
39
Show member pathways
12.96 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
40
Show member pathways
12.95 BRAF HRAS KRAS MAP2K1 MAP2K2 MRAS
41
Show member pathways
12.92 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
42
Show member pathways
12.92 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
43
Show member pathways
12.88 SPRED1 SOS1 PTPN11 NRAS KRAS HRAS
44
Show member pathways
12.87 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
45
Show member pathways
12.86 SOS1 PTPN11 NRAS KRAS HRAS
46
Show member pathways
12.86 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
47 12.84 HRAS MAP2K1 MAP2K2 RAF1 SOS1
48
Show member pathways
12.84 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
49
Show member pathways
12.83 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
50
Show member pathways
12.82 SOS2 SOS1 PTPN11 NRAS 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 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.16 BRAF CBL HRAS KRAS MAP2K1 MRAS
2 visual learning GO:0008542 10.09 NF1 KRAS BRAF
3 thymus development GO:0048538 10.08 RAF1 MAP2K2 MAP2K1 BRAF
4 epidermal growth factor receptor signaling pathway GO:0007173 10.06 SOS1 PTPN11 CBL BRAF
5 positive regulation of axonogenesis GO:0050772 10.03 MAP2K2 MAP2K1 BRAF
6 thyroid gland development GO:0030878 10.01 RAF1 MAP2K2 MAP2K1 BRAF
7 regulation of long-term neuronal synaptic plasticity GO:0048169 10 NF1 KRAS HRAS
8 neurotrophin TRK receptor signaling pathway GO:0048011 9.97 SOS1 RAF1 PTPN11
9 trachea formation GO:0060440 9.92 MAP2K2 MAP2K1
10 regulation of T cell differentiation in thymus GO:0033081 9.9 SOS2 SOS1
11 regulation of MAPK cascade GO:0043408 9.89 SPRED1 PTPN11 NF1
12 regulation of pro-B cell differentiation GO:2000973 9.88 SOS2 SOS1
13 regulation of Golgi inheritance GO:0090170 9.88 MAP2K2 MAP2K1
14 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.87 MAP2K2 MAP2K1
15 positive regulation of protein serine/threonine kinase activity GO:0071902 9.87 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
16 face development GO:0060324 9.86 RAF1 MAP2K2 MAP2K1 BRAF
17 MAPK cascade GO:0000165 9.86 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
18 cerebellar cortex formation GO:0021697 9.85 MAP2K1 PTPN11
19 forebrain astrocyte development GO:0021897 9.84 NF1 KRAS
20 regulation of axon regeneration GO:0048679 9.83 BRAF MAP2K1 MAP2K2
21 insulin receptor signaling pathway GO:0008286 9.81 SOS2 SOS1 RAF1 HRAS
22 insulin-like growth factor receptor signaling pathway GO:0048009 9.67 SOS1 RAF1 MAP2K2 MAP2K1
23 positive regulation of miRNA maturation GO:1903800 9.61 MAP2K2 MAP2K1
24 Ras protein signal transduction GO:0007265 9.58 SOS2 SOS1 SHOC2 RIT1 NRAS NF1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.91 RIT1 RAF1 NRAS MRAS MAP2K2 MAP2K1
2 GDP binding GO:0019003 9.85 HRAS KRAS MRAS NRAS RIT1
3 MAP kinase kinase activity GO:0004708 9.8 MAP2K2 MAP2K1 BRAF
4 G protein activity GO:0003925 9.65 RIT1 NRAS MRAS KRAS HRAS
5 protein serine/threonine kinase activator activity GO:0043539 9.23 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS

Sources for Rasopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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