Aliases & Classifications for Rasopathy

MalaCards integrated aliases for Rasopathy:

Name: Rasopathy 59 29 6 17

Classifications:



External Ids:

Orphanet 59 ORPHA536391

Summaries for Rasopathy

MalaCards based summary : Rasopathy is related to neurofibromatosis-noonan syndrome and costello syndrome. 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. Affiliated tissues include testes, brain and heart, and related phenotypes are Decreased viability and Decreased viability

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 199)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 32.1 PTPN11 NF1 MAP2K2
2 costello syndrome 32.1 SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
3 legius syndrome 31.9 SPRED1 PTPN11 NF1
4 leopard syndrome 31.9 RAF1 PTPN11 NF1 HRAS BRAF
5 lentigines 31.5 RAF1 PTPN11 BRAF
6 pulmonary valve stenosis 30.9 SOS1 PTPN11
7 cryptorchidism, unilateral or bilateral 30.7 SOS1 SHOC2 PTPN11
8 hypertrophic cardiomyopathy 30.7 SOS1 RAF1 PTPN11 KRAS BRAF
9 neurofibromatosis, type iv, of riccardi 30.6 PTPN11 NF1 HRAS
10 hypertelorism 30.4 RAF1 PTPN11 BRAF
11 schimmelpenning-feuerstein-mims syndrome 30.2 NRAS KRAS HRAS
12 cardiofaciocutaneous syndrome 1 30.1 SPRED1 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
13 nevus, epidermal 29.9 NRAS KRAS HRAS
14 noonan syndrome 1 29.3 SOS1 SHOC2 RAF1 PTPN11 NRAS NF1
15 noonan syndrome 3 28.7 SOS1 SHOC2 RAF1 PTPN11 LRRC56 KRAS
16 juvenile myelomonocytic leukemia 27.1 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
17 pulmonic stenosis 27.0 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
18 neurofibromatosis, type i 11.5
19 pseudo-turner syndrome 10.7
20 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.6 PTPN11 CBL
21 villonodular synovitis 10.6 SOS1 PTPN11
22 hyperplastic polyposis syndrome 10.5 KRAS BRAF
23 sigmoid neoplasm 10.5 KRAS HRAS
24 apocrine adenoma 10.5 KRAS HRAS
25 paronychia 10.4 KRAS HRAS
26 periampullary adenoma 10.4 KRAS HRAS
27 giant congenital nevus 10.4 NRAS HRAS
28 prostate adenoid cystic carcinoma 10.4 LRRC56 HRAS
29 bile duct cysts 10.4 KRAS HRAS
30 atrial standstill 1 10.4
31 benign struma ovarii 10.4 NRAS HRAS
32 capillary malformation-arteriovenous malformation 1 10.3
33 arteriovenous malformation 10.3
34 aggressive digital papillary adenocarcinoma 10.3 KRAS HRAS
35 alacrima, achalasia, and mental retardation syndrome 10.3
36 melanomatosis 10.3 NRAS HRAS
37 malignant conjunctival melanoma 10.3 NRAS HRAS
38 lung benign neoplasm 10.3 RAF1 KRAS HRAS
39 acral lentiginous melanoma 10.3 NRAS BRAF
40 appendix disease 10.3 KRAS HRAS
41 colorectal adenocarcinoma 10.2 KRAS HRAS BRAF
42 spitz nevus 10.2 LRRC56 HRAS BRAF
43 skin squamous cell carcinoma 10.2 MAP2K2 LRRC56 HRAS
44 langerhans cell histiocytosis 10.2 NRAS MAP2K1 BRAF
45 hypotonia 10.1
46 ovarian melanoma 10.1 NRAS MAP2K1 HRAS
47 liver angiosarcoma 10.1 NRAS KRAS HRAS
48 pulmonary valve disease 10.1 SPRED1 SOS1 PTPN11
49 renal cell carcinoma, papillary, 1 10.1 NRAS HRAS BRAF
50 marcus gunn phenomenon 10.1 NRAS 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 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.8 CBL HRAS KRAS BRAF
2 Decreased viability GR00106-A-0 10.8 KRAS
3 Decreased viability GR00107-A-1 10.8 MAP2K1
4 Decreased viability GR00221-A-1 10.8 HRAS NRAS KRAS NF1 RAF1
5 Decreased viability GR00221-A-2 10.8 CBL HRAS KRAS NF1 RAF1
6 Decreased viability GR00221-A-3 10.8 CBL HRAS MAP2K1 NRAS
7 Decreased viability GR00221-A-4 10.8 NF1 BRAF
8 Decreased viability GR00231-A 10.8 RAF1
9 Decreased viability GR00301-A 10.8 KRAS RAF1 BRAF
10 Decreased viability GR00342-S-1 10.8 MAP2K1
11 Decreased viability GR00342-S-2 10.8 MAP2K1
12 Decreased viability GR00342-S-3 10.8 MAP2K1
13 Decreased viability GR00381-A-1 10.8 KRAS BRAF
14 Decreased viability GR00402-S-2 10.8 CBL HRAS MAP2K1 NRAS KRAS NF1
15 Decreased cell migration GR00055-A-1 9.8 BRAF CBL HRAS KRAS MAP2K2 NF1
16 Increased cell migration GR00055-A-3 9.43 BRAF CBL HRAS KRAS NF1 SOS1
17 Reduced mammosphere formation GR00396-S 9.23 BRAF HRAS KRAS NRAS PPP1CB PTPN11

MGI Mouse Phenotypes related to Rasopathy:

46 (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 mortality/aging MP:0010768 10.25 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
10 digestive/alimentary MP:0005381 10.24 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11 hematopoietic system MP:0005397 10.24 BRAF CBL KRAS MRAS NF1 NRAS
12 embryo MP:0005380 10.23 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
13 immune system MP:0005387 10.21 BRAF CBL KRAS MRAS NF1 NRAS
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

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:

41
Testes, Brain, Heart, Skin, Spinal Cord, Cortex

Publications for Rasopathy

Articles related to Rasopathy:

(show top 50) (show all 178)
# Title Authors PMID Year
1
Costello syndrome: Clinical phenotype, genotype, and management guidelines. 38
31222966 2019
2
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. 38
31406347 2019
3
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST). 38
31397088 2019
4
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 38
31173466 2019
5
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 38
31059601 2019
6
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. 38
31336229 2019
7
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 38
31277675 2019
8
Cardiac transplantation in children with Noonan syndrome. 38
31259454 2019
9
Structural basis of the atypical activation mechanism of KRAS V14I. 38
31341022 2019
10
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. 38
30622101 2019
11
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 38
31130282 2019
12
Cardiac Manifestations of Noonan Syndrome. 38
31115199 2019
13
NF1 Somatic Mutation in Dystrophic Scoliosis. 38
30778836 2019
14
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 38
31088041 2019
15
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 38
31108500 2019
16
Increased nuchal translucency: results from microarray and RASopathy disorders testing. 38
31115076 2019
17
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 38
31040167 2019
18
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy. 38
30762279 2019
19
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning. 38
31017896 2019
20
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom. 38
30535072 2019
21
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 38
30481304 2019
22
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. 38
30732632 2019
23
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. 38
30443000 2019
24
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. 38
30803559 2019
25
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. 38
30808747 2019
26
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. 38
30827948 2019
27
RASopathy in Patients With Isolated Sagittal Synostosis. 38
31192281 2019
28
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. 38
30430033 2018
29
MRAS: A Close but Understudied Member of the RAS Family. 38
29311130 2018
30
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. 38
30462361 2018
31
RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges. 38
30007125 2018
32
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 38
29493581 2018
33
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. 38
30311384 2018
34
Cardiovascular disease in Noonan syndrome. 38
30024444 2018
35
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. 38
29924299 2018
36
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing. 38
29945942 2018
37
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. 38
30373874 2018
38
RAS signalling in energy metabolism and rare human diseases. 38
29750912 2018
39
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. 38
30055033 2018
40
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. 38
29737035 2018
41
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC? 38
29704308 2018
42
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. 38
29696744 2018
43
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience. 38
29797062 2018
44
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. 38
29910053 2018
45
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease. 38
29799162 2018
46
Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies. 38
29622558 2018
47
RASopathies are associated with a distinct personality profile. 38
29659143 2018
48
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. 38
29525650 2018
49
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome. 38
29590634 2018
50
Suppression of RAC1-driven malignant melanoma by group A PAK inhibitors. 38
29059171 2018

Variations for Rasopathy

ClinVar genetic disease variations for Rasopathy:

6 (show top 50) (show all 896)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF): c.1390G> A (p.Gly464Arg) single nucleotide variant Pathogenic rs121913349 7:140481418-140481418 7:140781618-140781618
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 10:112724120-112724120 10:110964362-110964362
3 KRAS NM_004985.5(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 12:25380280-25380280 12:25227346-25227346
4 HRAS NM_005343.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
5 HRAS NM_005343.4(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 11:534288-534288 11:534288-534288
6 HRAS NM_005343.4(HRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs104894226 11:534285-534285 11:534285-534285
7 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 11:534286-534286 11:534286-534286
8 HRAS NM_005343.4(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
9 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 2:39278352-39278352 2:39051211-39051211
10 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 2:39278343-39278343 2:39051202-39051202
11 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 2:39249915-39249915 2:39022774-39022774
12 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 2:39249913-39249913 2:39022772-39022772
13 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 2:39250275-39250275 2:39023134-39023134
14 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 12:112888198-112888198 12:112450394-112450394
15 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 12:112888199-112888199 12:112450395-112450395
16 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 12:112915523-112915523 12:112477719-112477719
17 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 12:112915524-112915524 12:112477720-112477720
18 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 12:112888168-112888168 12:112450364-112450364
19 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 12:112888166-112888166 12:112450362-112450362
20 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 12:112926270-112926270 12:112488466-112488466
21 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 12:112926884-112926884 12:112489080-112489080
22 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 12:112888172-112888172 12:112450368-112450368
23 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 12:112888202-112888202 12:112450398-112450398
24 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 12:112915455-112915455 12:112477651-112477651
25 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 12:112888210-112888210 12:112450406-112450406
26 PTPN11 NM_002834.4(PTPN11): c.227A> T (p.Glu76Val) single nucleotide variant Pathogenic rs121918465 12:112888211-112888211 12:112450407-112450407
27 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 12:112888220-112888220 12:112450416-112450416
28 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 12:112926248-112926248 12:112488444-112488444
29 PTPN11 NM_002834.4(PTPN11): c.1391G> C (p.Gly464Ala) single nucleotide variant Pathogenic rs121918469 12:112926258-112926258 12:112488454-112488454
30 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 12:112926909-112926909 12:112489105-112489105
31 KRAS NM_004985.5(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 12:25398284-25398284 12:25245350-25245350
32 KRAS NM_004985.5(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 12:25380280-25380280 12:25227346-25227346
33 KRAS NM_004985.5(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 12:25362838-25362838 12:25209904-25209904
34 KRAS NM_004985.5(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 12:25380285-25380285 12:25227351-25227351
35 KRAS NM_004985.5(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 12:25398279-25398279 12:25245345-25245345
36 PTPN11 NM_002834.4(PTPN11): c.5C> T (p.Thr2Ile) single nucleotide variant Pathogenic rs267606990 12:112856920-112856920 12:112419116-112419116
37 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 15:66729181-66729181 15:66436843-66436843
38 CBL NM_005188.3(CBL): c.1100A> C (p.Gln367Pro) single nucleotide variant Pathogenic rs267606704 11:119148880-119148880 11:119278170-119278170
39 CBL NM_005188.3(CBL): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic rs267606706 11:119148891-119148891 11:119278181-119278181
40 NRAS NM_002524.5(NRAS): c.149C> T (p.Thr50Ile) single nucleotide variant Pathogenic rs267606921 1:115256562-115256562 1:114713941-114713941
41 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 3:12645699-12645699 3:12604200-12604200
42 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic rs121434594 3:12645688-12645688 3:12604189-12604189
43 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 3:12626123-12626123 3:12584624-12584624
44 BRAF NM_004333.6(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 7:140501336-140501336 7:140801536-140801536
45 BRAF NM_004333.6(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic rs121913369 7:140453146-140453146 7:140753346-140753346
46 BRAF NM_004333.6(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 7:140501302-140501302 7:140801502-140801502
47 BRAF NM_004333.6(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 7:140481402-140481402 7:140781602-140781602
48 BRAF NM_004333.6(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 7:140477853-140477853 7:140778053-140778053
49 BRAF NM_004333.6(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 7:140453987-140453987 7:140754187-140754187
50 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 3:12627244-12627244 3:12585745-12585745

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 218)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.33 SPRED1 SOS1 RAF1 PTPN11 PPP1CB NRAS
2
Show member pathways
14.19 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
3
Show member pathways
14.06 SOS1 RAF1 PTPN11 PPP1CB NRAS MRAS
4
Show member pathways
14.03 SOS1 RAF1 NRAS NF1 MRAS MAP2K2
5
Show member pathways
13.91 SOS1 SNAPC5 RAF1 PPP1CB NRAS MAP2K1
6
Show member pathways
13.91 SOS1 RAF1 PTPN11 NRAS NF1 MAP2K2
7
Show member pathways
13.86 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
8
Show member pathways
13.83 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
13.63 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2
13
Show member pathways
13.62 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
14
Show member pathways
13.57 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
15
Show member pathways
13.54 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2
16
Show member pathways
13.53 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
17
Show member pathways
13.46 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
18
Show member pathways
13.39 PTPN11 PPP1CB NRAS MRAS KRAS HRAS
19
Show member pathways
13.34 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2
20
Show member pathways
13.3 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
21
Show member pathways
13.29 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2
22
Show member pathways
13.28 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
23
Show member pathways
13.27 SOS1 RAF1 PPP1CB NRAS MAP2K2 MAP2K1
24
Show member pathways
13.21 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
25
Show member pathways
13.19 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
26
Show member pathways
13.19 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2
27
Show member pathways
13.18 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
28
Show member pathways
13.17 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
29
Show member pathways
13.17 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
30
Show member pathways
13.16 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
31
Show member pathways
13.16 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
32
Show member pathways
13.15 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
33
Show member pathways
13.14 SOS1 RAF1 NRAS MRAS MAP2K1 KRAS
34 13.13 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
35
Show member pathways
13.12 SOS1 RAF1 PTPN11 PPP1CB NRAS MAP2K2
36
Show member pathways
13.1 SOS1 RAF1 NRAS MRAS MAP2K2 MAP2K1
37
Show member pathways
13.09 SPRED1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
38
Show member pathways
13.07 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
39 13.05 SOS1 RAF1 NRAS NF1 MRAS MAP2K2
40
Show member pathways
13.04 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
41
Show member pathways
13 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
42
Show member pathways
12.98 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
43
Show member pathways
12.98 SOS1 RAF1 PPP1CB NRAS MAP2K2 MAP2K1
44
Show member pathways
12.98 SOS1 RAF1 NRAS NF1 MAP2K2 MAP2K1
45
Show member pathways
12.98 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
46
Show member pathways
12.97 SOS1 PTPN11 NRAS KRAS HRAS
47
Show member pathways
12.97 RAF1 NRAS MRAS MAP2K2 MAP2K1 KRAS
48
Show member pathways
12.93 SOS1 PTPN11 NRAS KRAS HRAS CBL
49
Show member pathways
12.9 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
50
Show member pathways
12.9 SOS1 RAF1 PPP1CB NRAS MRAS MAP2K2

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 PPP1CB
2 focal adhesion GO:0005925 9.35 PPP1CB MAP2K2 MAP2K1 KRAS CBL
3 protein phosphatase type 1 complex GO:0000164 9.16 SHOC2 PPP1CB
4 plasma membrane GO:0005886 10 SPRED1 SOS1 RAF1 PPP1CB NRAS MRAS

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.92 SOS1 PTPN11 KRAS CBL
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 PTPN11 MAP2K1 HRAS BRAF
3 heart development GO:0007507 9.91 RAF1 PTPN11 NF1 MAP2K1
4 signal transduction GO:0007165 9.85 SOS1 RAF1 NRAS NF1 MRAS MAP2K1
5 activation of MAPK activity GO:0000187 9.81 PTPN11 MAP2K2 MAP2K1
6 epidermal growth factor receptor signaling pathway GO:0007173 9.72 SOS1 PTPN11 CBL
7 visual learning GO:0008542 9.71 NF1 KRAS BRAF
8 thymus development GO:0048538 9.7 RAF1 MAP2K1 BRAF
9 interleukin-6-mediated signaling pathway GO:0070102 9.63 PTPN11 CBL
10 thyroid gland development GO:0030878 9.63 RAF1 MAP2K1 BRAF
11 regulation of synaptic transmission, GABAergic GO:0032228 9.62 NF1 KRAS
12 fibroblast growth factor receptor signaling pathway GO:0008543 9.62 SPRED1 SHOC2 PTPN11 CBL
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.61 NF1 KRAS HRAS
14 regulation of stress-activated MAPK cascade GO:0032872 9.6 MAP2K2 MAP2K1
15 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.59 MAP2K2 MAP2K1
16 Bergmann glial cell differentiation GO:0060020 9.58 PTPN11 MAP2K1
17 response to isolation stress GO:0035900 9.58 KRAS HRAS
18 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SOS1 RAF1 PTPN11
19 regulation of early endosome to late endosome transport GO:2000641 9.57 MAP2K2 MAP2K1
20 regulation of axon regeneration GO:0048679 9.56 MAP2K1 BRAF
21 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.56 RAF1 NRAS KRAS HRAS
22 face development GO:0060324 9.54 RAF1 MAP2K1 BRAF
23 regulation of Golgi inheritance GO:0090170 9.51 MAP2K2 MAP2K1
24 Ras protein signal transduction GO:0007265 9.5 SOS1 SHOC2 NRAS NF1 MRAS KRAS
25 cerebellar cortex formation GO:0021697 9.49 PTPN11 MAP2K1
26 forebrain astrocyte development GO:0021897 9.48 NF1 KRAS
27 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 protein binding GO:0005515 9.86 SPRED1 SOS1 SNAPC5 SHOC2 RAF1 PTPN11
2 GTPase activity GO:0003924 9.46 NRAS MRAS KRAS HRAS
3 MAP kinase kinase activity GO:0004708 9.32 MAP2K2 MAP2K1
4 mitogen-activated protein kinase kinase binding GO:0031434 9.26 RAF1 BRAF
5 nucleotide binding GO:0000166 9.17 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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