CFC1
MCID: CRD013
MIFTS: 63

Cardiofaciocutaneous Syndrome (CFC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Cardiofaciocutaneous Syndrome

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

Name: Cardiofaciocutaneous Syndrome 54 12 23 50 24 25 56 13 14
Cfc Syndrome 12 23 50 24 25 56 66 52
Cardio-Facio-Cutaneous Syndrome 50 24 25 66 29
Cardiofaciocutaneous Syndrome 1 66 29
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 50
Cardio-Facial-Cutaneous Syndrome 12
Cfcs 66
Cfc1 66

Characteristics:

Orphanet epidemiological data:

56
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age;

GeneReviews:

23
cardiofaciocutaneous syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


GeneReviews:

23
Penetrance Penetrance is complete in cfc syndrome...

Classifications:



External Ids:

OMIM 54 115150
Disease Ontology 12 DOID:0060233
ICD10 33 Q87.8
Orphanet 56 ORPHA1340
UMLS via Orphanet 70 C1275081
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C535579
MedGen 40 C1275081

Summaries for Cardiofaciocutaneous Syndrome

OMIM : 54 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (115150) more...

MalaCards based summary : Cardiofaciocutaneous Syndrome, also known as cfc syndrome, is related to cardiofaciocutaneous syndrome 3 and cardiofaciocutaneous syndrome 4, and has symptoms including dry skin, macrocephaly and hypertelorism. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Affiliated tissues include heart, skin and bone, and related phenotypes are Decreased viability and cardiovascular system

Disease Ontology : 12 A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.

Genetics Home Reference : 25 Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

NIH Rare Diseases : 50 cardiofaciocutaneous (cfc) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. people with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. the signs and symptoms of cfc syndrome overlap significantly with those of two other conditions, costello syndrome and noonan syndrome. these syndromes belong to a group of related conditions called the rasopathies, which are distinguished by their genetic causes and specific pattern of features. it can sometimes be hard to tell these conditions apart in infancy. cfc syndrome is usually caused by a mutation in the braf gene, but can also be due to a mutation in the map2k1, map2k2 or kras gene. it is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person. treatment depends on the symptoms in each person and may include surgery for heart defects. last updated: 5/6/2015

UniProtKB/Swiss-Prot : 66 Cardiofaciocutaneous syndrome 1: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.

Wikipedia : 71 Cardiofaciocutaneous Syndrome (CFC syndrome) is an extremely rare and serious genetic... more...

GeneReviews: NBK1186

Related Diseases for Cardiofaciocutaneous Syndrome

Diseases in the Cardiofaciocutaneous Syndrome family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4 Braf-Related Cardiofaciocutaneous Syndrome
Kras-Related Cardiofaciocutaneous Syndrome Map2k1-Related Cardiofaciocutaneous Syndrome
Map2k2-Related Cardiofaciocutaneous Syndrome

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

(show top 50) (show all 73)
id Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 3 12.1
2 cardiofaciocutaneous syndrome 4 12.1
3 cardiofaciocutaneous syndrome 2 12.1
4 braf-related cardiofaciocutaneous syndrome 11.7
5 kras-related cardiofaciocutaneous syndrome 11.7
6 map2k1-related cardiofaciocutaneous syndrome 11.7
7 map2k2-related cardiofaciocutaneous syndrome 11.7
8 transposition of the great arteries, dextro-looped 1 11.4
9 heart disease 11.4
10 heterotaxy 11.4
11 biliary atresia 11.3
12 transposition of the great arteries 11.3
13 heterotaxy, visceral, 2, autosomal 11.1
14 visceral heterotaxy 11.0
15 conotruncal heart malformations 11.0
16 cfc1-related visceral heterotaxy 10.9
17 dextro-looped transposition of the great arteries 10.9
18 biliary atresia with splenic malformation syndrome 10.9
19 transposition of the great arteries, dextro-looped 2 10.9
20 heart septal defect 10.9
21 cfc1-related conotruncal heart malformations 10.9
22 heterotaxy, visceral, 1, x-linked 10.8
23 woolly hair, autosomal dominant 10.8
24 pectus carinatum 10.8
25 noonan syndrome 1 10.8
26 hypotrichosis 8 10.8
27 growth hormone insensitivity with immunodeficiency 10.2 MAP2K2 PTPN11
28 malignant skin fibrous histiocytoma 10.2 HRAS KRAS
29 spondylarthropathy 10.2 BRAF HRAS
30 biliary papillomatosis 10.2 BRAF KRAS
31 chronic venous insufficiency 10.2 HRAS KRAS
32 infantile thalamic degeneration 10.2 BRAF KRAS
33 erythrocyte lactate transporter defect 10.2 HRAS KRAS
34 melanocytic nevus syndrome, congenital, somatic 10.2 HRAS KRAS
35 oral squamous cell carcinoma 10.1 BRAF HRAS KRAS
36 parotid gland adenoid cystic carcinoma 10.1 HRAS MAP2K1
37 non-distal monosomy 10q 10.1 BRAF HRAS KRAS
38 polg-related disorders 10.1 BRAF PTPN11 RAF1
39 parachordoma 10.1 BRAF KRAS
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.1 BRAF HRAS MAP2K1
41 brachial plexus neuropathy 10.1 HRAS KRAS RAF1
42 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.1 PTPN11 RAF1 SOS1
43 vulvar apocrine adenocarcinoma 10.0 PTPN11 SOS1 SPRED1
44 vulvar sebaceous carcinoma 10.0 PTPN11 SOS1 SPRED1
45 seborrheic dermatitis 10.0 HRAS PTPN11 SPRED1
46 endometrial small cell carcinoma 10.0 BRAF MAP2K7
47 bile duct disease 10.0 HRAS KRAS
48 severe pre-eclampsia 9.9 HRAS KRAS MAP2K7
49 multinodular goiter 9.9 HRAS KRAS MAP2K7
50 costello syndrome 9.9

Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome:



Diseases related to Cardiofaciocutaneous Syndrome

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome

Symptoms by clinical synopsis from OMIM:

115150

Clinical features from OMIM:

115150

Human phenotypes related to Cardiofaciocutaneous Syndrome:

56 32 (show top 50) (show all 122)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 56 32 Very frequent (99-80%) HP:0000958
2 macrocephaly 56 32 Frequent (79-30%) HP:0000256
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 short neck 56 32 Frequent (79-30%) HP:0000470
5 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
6 frontal bossing 56 32 Frequent (79-30%) HP:0002007
7 genu valgum 56 32 Occasional (29-5%) HP:0002857
8 high palate 56 32 Frequent (79-30%) HP:0000218
9 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
10 ptosis 56 32 Frequent (79-30%) HP:0000508
11 nystagmus 56 32 Frequent (79-30%) HP:0000639
12 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
13 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
14 dysarthria 56 32 Occasional (29-5%) HP:0001260
15 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
16 scoliosis 56 32 Frequent (79-30%) HP:0002650
17 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
18 macrotia 56 32 Frequent (79-30%) HP:0000400
19 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
20 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
21 abnormality of the ulna 56 32 Frequent (79-30%) HP:0002997
22 short nose 56 32 Frequent (79-30%) HP:0003196
23 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
24 optic atrophy 56 32 Occasional (29-5%) HP:0000648
25 short stature 56 32 Very frequent (99-80%) HP:0004322
26 ichthyosis 56 32 Frequent (79-30%) HP:0008064
27 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
28 abnormality of vision 56 32 Very frequent (99-80%) HP:0000504
29 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
30 full cheeks 56 32 Very frequent (99-80%) HP:0000293
31 long philtrum 56 32 Frequent (79-30%) HP:0000343
32 hyperkeratosis 56 32 Frequent (79-30%) HP:0000962
33 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
34 strabismus 56 32 Frequent (79-30%) HP:0000486
35 epicanthus 56 32 Frequent (79-30%) HP:0000286
36 cavernous hemangioma 56 32 Frequent (79-30%) HP:0001048
37 biparietal narrowing 56 32 Frequent (79-30%) HP:0004422
38 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
39 lymphedema 56 32 Occasional (29-5%) HP:0001004
40 low posterior hairline 56 32 Frequent (79-30%) HP:0002162
41 cubitus valgus 56 32 Occasional (29-5%) HP:0002967
42 webbed neck 56 32 Frequent (79-30%) HP:0000465
43 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
44 myopia 56 32 Frequent (79-30%) HP:0000545
45 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
46 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
47 multiple cafe-au-lait spots 56 32 Frequent (79-30%) HP:0007565
48 long face 56 32 Very frequent (99-80%) HP:0000276
49 fine hair 56 32 Very frequent (99-80%) HP:0002213
50 high forehead 56 32 Frequent (79-30%) HP:0000348

GenomeRNAi Phenotypes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.74 KRAS BRAF HRAS MAPK1
2 Decreased viability GR00106-A-0 10.74 KRAS
3 Decreased viability GR00107-A-1 10.74 MAP2K1
4 Decreased viability GR00221-A-1 10.74 HRAS KRAS MAPK1 MAP2K7 RAF1
5 Decreased viability GR00221-A-2 10.74 HRAS KRAS RAF1
6 Decreased viability GR00221-A-3 10.74 HRAS MAPK1 MAP2K1
7 Decreased viability GR00221-A-4 10.74 BRAF MAPK1
8 Decreased viability GR00231-A 10.74 MAPK1 RAF1
9 Decreased viability GR00301-A 10.74 KRAS BRAF RAF1
10 Decreased viability GR00342-S-1 10.74 MAPK1 MAP2K7 MAP2K1
11 Decreased viability GR00342-S-2 10.74 MAPK1 MAP2K1
12 Decreased viability GR00342-S-3 10.74 MAPK1 MAP2K1
13 Decreased viability GR00381-A-1 10.74 BRAF KRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.1 SOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.1 BRAF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.1 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.1 SOS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.1 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.1 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.1 SOS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.1 PTPN11
22 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.1 RAF1 SOS1 BRAF PTPN11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.1 RAF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.1 RAF1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.1 BRAF
26 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.1 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.1 PTPN11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.1 PTPN11
29 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.1 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.1 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.1 BRAF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.1 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.1 PTPN11
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.1 PTPN11 BRAF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.1 RAF1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.1 PTPN11
37 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.1 PTPN11
38 Decreased substrate adherent cell growth GR00193-A-1 9.92 MAPK1
39 Decreased substrate adherent cell growth GR00193-A-2 9.92 MAP2K7
40 Decreased substrate adherent cell growth GR00193-A-3 9.92 BRAF MAP2K2 MAP2K7 MAPK1
41 Decreased substrate adherent cell growth GR00193-A-4 9.92 BRAF MAPK1
42 Decreased cell migration GR00055-A-1 9.88 BRAF HRAS KRAS MAP2K2 MAPK1 SOS1
43 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.77 BRAF MAP2K2 MAP2K7 MAPK1 RAF1
44 Increased cell migration GR00055-A-3 9.55 BRAF HRAS KRAS MAPK1 SOS1
45 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 BRAF MAP2K2 MAPK1 PTPN11

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 MAP2K2 MAPK1 PTPN11 BRAF HRAS KRAS
2 craniofacial MP:0005382 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
3 growth/size/body region MP:0005378 10.26 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
4 endocrine/exocrine gland MP:0005379 10.24 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
5 cellular MP:0005384 10.23 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1
6 homeostasis/metabolism MP:0005376 10.22 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
7 integument MP:0010771 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8 mortality/aging MP:0010768 10.17 MAPK1 PTPN11 RAF1 SHOC2 SOS1 BRAF
9 embryo MP:0005380 10.15 BRAF KRAS MAP2K1 MAPK1 PTPN11 RAF1
10 digestive/alimentary MP:0005381 10.1 BRAF KRAS MAP2K1 MAP2K2 MAPK1 PTPN11
11 hematopoietic system MP:0005397 10.1 MAP2K7 BRAF KRAS MAPK1 PTPN11 RAF1
12 hearing/vestibular/ear MP:0005377 10.05 BRAF KRAS MAP2K1 MAP2K2 MAPK1 PTPN11
13 neoplasm MP:0002006 10.02 MAP2K1 MAP2K2 MAP2K7 MAPK1 PTPN11 RAF1
14 nervous system MP:0003631 10.02 RAF1 SOS1 BRAF HRAS KRAS MAP2K1
15 normal MP:0002873 9.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
16 muscle MP:0005369 9.88 BRAF KRAS MAPK1 PTPN11 RAF1 SOS1
17 respiratory system MP:0005388 9.76 SHOC2 SPRED1 BRAF HRAS KRAS MAPK1
18 skeleton MP:0005390 9.61 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
19 vision/eye MP:0005391 9.28 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome

Genetic Tests for Cardiofaciocutaneous Syndrome

Genetic tests related to Cardiofaciocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 1 29
2 Cardio-Facio-Cutaneous Syndrome 29
3 Cardiofaciocutaneous Syndrome 24 MAP2K2

Anatomical Context for Cardiofaciocutaneous Syndrome

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

39
Heart, Skin, Bone, Eye, Tongue

Publications for Cardiofaciocutaneous Syndrome

Articles related to Cardiofaciocutaneous Syndrome:

(show all 40)
id Title Authors Year
1
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis. ( 28207016 )
2017
2
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. ( 28524057 )
2017
3
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment. ( 27680485 )
2016
4
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. ( 26842671 )
2016
5
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder. ( 28050463 )
2016
6
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. ( 27149079 )
2016
7
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. ( 25514835 )
2015
8
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. ( 26225596 )
2015
9
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. ( 25827862 )
2015
10
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. ( 26242988 )
2015
11
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. ( 25194980 )
2015
12
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. ( 25487361 )
2015
13
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. ( 25346259 )
2014
14
The perinatal presentation of cardiofaciocutaneous syndrome. ( 24719372 )
2014
15
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. ( 25250515 )
2014
16
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. ( 24283439 )
2013
17
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). ( 24166813 )
2013
18
Cardiofaciocutaneous syndrome. ( 24600094 )
2013
19
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. ( 24303953 )
2013
20
Cardiofaciocutaneous syndrome: a rare entity. ( 22837569 )
2012
21
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. ( 20523244 )
2011
22
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. ( 21062266 )
2011
23
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. ( 21178588 )
2011
24
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. ( 20186801 )
2010
25
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. ( 19804494 )
2010
26
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. ( 20518782 )
2010
27
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ( 19206169 )
2009
28
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. ( 18773675 )
2008
29
The cardiofaciocutaneous syndrome: prenatal findings in two patients. ( 18022830 )
2008
30
Peripheral neuropathy in cardiofaciocutaneous syndrome. ( 17437909 )
2007
31
The cardiofaciocutaneous syndrome. ( 16825433 )
2006
32
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. ( 16007634 )
2005
33
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. ( 15096145 )
2004
34
CFC index for the diagnosis of cardiofaciocutaneous syndrome. ( 12239713 )
2002
35
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. ( 10528867 )
1999
36
Cardiofaciocutaneous Syndrome ( 20301365 )
1993
37
Retinal dystrophy in the cardiofaciocutaneous syndrome. ( 8410580 )
1993
38
Cardiofaciocutaneous syndrome. ( 8420490 )
1993
39
Cardiofaciocutaneous syndrome. ( 1342862 )
1992
40
Cardiofaciocutaneous syndrome with new ectodermal manifestations. ( 1619641 )
1992

Variations for Cardiofaciocutaneous Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome:

66 (show all 24)
id Symbol AA change Variation ID SNP ID
1 BRAF p.Gly469Glu VAR_018621 rs121913355
2 BRAF p.Phe595Leu VAR_018625 rs121913341
3 BRAF p.Ala246Pro VAR_026113 rs180177034
4 BRAF p.Gln257Arg VAR_026114 rs180177035
5 BRAF p.Leu485Phe VAR_026115 rs180177036
6 BRAF p.Lys499Glu VAR_026116 rs180177037
7 BRAF p.Glu501Gly VAR_026117 rs180177039
8 BRAF p.Glu501Lys VAR_026118 rs180177038
9 BRAF p.Asn581Asp VAR_026119 rs180177040
10 BRAF p.Ser467Ala VAR_035096 rs869025606
11 BRAF p.Phe468Ser VAR_035097 rs397507473
12 BRAF p.Gly596Val VAR_035098 rs397507483
13 BRAF p.Thr241Pro VAR_058621 rs387906661
14 BRAF p.Leu245Phe VAR_058623 rs397507466
15 BRAF p.Glu275Lys VAR_058624
16 BRAF p.Lys499Asn VAR_058625 rs397507476
17 BRAF p.Leu525Pro VAR_058626 rs869025340
18 BRAF p.Thr599Arg VAR_058628
19 BRAF p.Lys601Gln VAR_058629 rs121913364
20 BRAF p.Asp638Glu VAR_058630 rs180177042
21 BRAF p.Gln709Arg VAR_058631 rs397507486
22 BRAF p.Thr244Pro VAR_065171 rs397507465
23 BRAF p.Gln262Lys VAR_065172 rs397507470
24 BRAF p.Asn580Asp VAR_065173

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome:

6 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1 MAP2K2 NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh37 Chromosome 19, 4117550: 4117550
2 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Pathogenic/Likely pathogenic rs121434499 GRCh37 Chromosome 19, 4110557: 4110557
3 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh37 Chromosome 19, 4110574: 4110574
4 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh37 Chromosome 15, 66729181: 66729181
5 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh37 Chromosome 15, 66729175: 66729175
6 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic/Likely pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
7 BRAF NM_004333.4(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh37 Chromosome 7, 140501336: 140501336
8 BRAF NM_004333.4(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh37 Chromosome 7, 140501302: 140501302
9 BRAF NM_004333.4(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913355 GRCh37 Chromosome 7, 140481402: 140481402
10 BRAF NM_004333.4(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 GRCh37 Chromosome 7, 140477853: 140477853
11 BRAF NM_004333.4(BRAF): c.1495A> G (p.Lys499Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177037 GRCh37 Chromosome 7, 140477813: 140477813
12 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh37 Chromosome 7, 140477807: 140477807
13 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
14 BRAF NM_004333.4(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 GRCh37 Chromosome 7, 140453987: 140453987
15 BRAF NM_004333.4(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic rs180177041 GRCh37 Chromosome 7, 140476806: 140476806
16 BRAF NM_004333.4(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic rs180177042 GRCh37 Chromosome 7, 140449165: 140449165
17 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
18 BRAF NM_004333.4(BRAF): c.730A> C (p.Thr244Pro) single nucleotide variant Pathogenic rs397507465 GRCh37 Chromosome 7, 140501342: 140501342
19 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
20 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
21 BRAF NM_004333.4(BRAF): c.1403T> C (p.Phe468Ser) single nucleotide variant Pathogenic rs397507473 GRCh37 Chromosome 7, 140481405: 140481405
22 BRAF NM_004333.4(BRAF): c.1447A> C (p.Lys483Gln) single nucleotide variant Likely pathogenic rs397507474 GRCh37 Chromosome 7, 140477861: 140477861
23 BRAF NM_004333.4(BRAF): c.1454T> C (p.Leu485Ser) single nucleotide variant Pathogenic/Likely pathogenic rs397507475 GRCh37 Chromosome 7, 140477854: 140477854
24 BRAF NM_004333.4(BRAF): c.1502A> T (p.Glu501Val) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
25 BRAF NM_004333.4(BRAF): c.1695T> G (p.Asp565Glu) single nucleotide variant Likely pathogenic rs397507480 GRCh37 Chromosome 7, 140454033: 140454033
26 BRAF NM_004333.4(BRAF): c.1787G> T (p.Gly596Val) single nucleotide variant Pathogenic/Likely pathogenic rs397507483 GRCh37 Chromosome 7, 140453148: 140453148
27 BRAF NM_004333.4(BRAF): c.1799T> G (p.Val600Gly) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
28 MAP2K1 NM_002755.3(MAP2K1): c.371C> T (p.Pro124Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397516792 GRCh37 Chromosome 15, 66729163: 66729163
29 MAP2K1 NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397516793 GRCh37 Chromosome 15, 66729180: 66729180
30 MAP2K2 NM_030662.3(MAP2K2): c.181A> G (p.Lys61Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730880517 GRCh37 Chromosome 19, 4117539: 4117539
31 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic/Likely pathogenic rs727504317 GRCh37 Chromosome 15, 66727483: 66727483
32 MAP2K1 NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe) single nucleotide variant Likely pathogenic rs397516789 GRCh37 Chromosome 15, 66727408: 66727408
33 BRAF NM_004333.4(BRAF): c.1442C> A (p.Ala481Glu) single nucleotide variant Likely pathogenic rs397516892 GRCh37 Chromosome 7, 140477866: 140477866
34 BRAF NM_004333.4(BRAF): c.1460T> G (p.Val487Gly) single nucleotide variant Likely pathogenic rs397516893 GRCh37 Chromosome 7, 140477848: 140477848
35 BRAF NM_004333.4(BRAF): c.1501G> C (p.Glu501Gln) single nucleotide variant Likely pathogenic rs180177038 GRCh37 Chromosome 7, 140477807: 140477807
36 BRAF NM_004333.4(BRAF): c.1720C> T (p.His574Tyr) single nucleotide variant Pathogenic rs397516894 GRCh37 Chromosome 7, 140454008: 140454008
37 BRAF NM_004333.4(BRAF): c.1743T> A (p.Asn581Lys) single nucleotide variant Pathogenic rs397516895 GRCh37 Chromosome 7, 140453192: 140453192
38 BRAF NM_004333.4(BRAF): c.785A> C (p.Gln262Pro) single nucleotide variant Likely pathogenic rs397516904 GRCh37 Chromosome 7, 140501287: 140501287
39 BRAF NM_004333.4(BRAF): c.1785T> G (p.Phe595Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913341 GRCh37 Chromosome 7, 140453150: 140453150
40 BRAF NM_004333.4(BRAF): c.1914T> G (p.Asp638Glu) single nucleotide variant Pathogenic rs180177042 GRCh37 Chromosome 7, 140449165: 140449165
41 MAP2K2 NM_030662.3(MAP2K2): c.401A> G (p.Tyr134Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727504370 GRCh37 Chromosome 19, 4110556: 4110556
42 BRAF NM_004333.4(BRAF): c.1783T> C (p.Phe595Leu) single nucleotide variant Pathogenic/Likely pathogenic rs794729219 GRCh37 Chromosome 7, 140453152: 140453152
43 BRAF NM_004333.4(BRAF): c.1408_1410delACA (p.Thr470del) deletion Pathogenic rs869025607 GRCh37 Chromosome 7, 140481398: 140481400
44 BRAF NM_004333.4(BRAF): c.1399T> G (p.Ser467Ala) single nucleotide variant Pathogenic rs869025606 GRCh37 Chromosome 7, 140481409: 140481409
45 MAP2K1 NM_002755.3(MAP2K1): c.171G> T (p.Lys57Asn) single nucleotide variant Pathogenic/Likely pathogenic rs869025608 GRCh38 Chromosome 15, 66435117: 66435117
46 KRAS NM_004985.4(KRAS): c.211T> G (p.Tyr71Asp) single nucleotide variant Likely pathogenic rs387907205 GRCh38 Chromosome 12, 25227313: 25227313

Expression for Cardiofaciocutaneous Syndrome

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome.

Pathways for Cardiofaciocutaneous Syndrome

Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 217)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.24 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
2
Show member pathways
14.16 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
3
Show member pathways
13.99 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
4
Show member pathways
13.96 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
5
Show member pathways
13.88 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
6
Show member pathways
13.85 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
7
Show member pathways
13.81 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8
Show member pathways
13.73 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
9
Show member pathways
13.7 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
10
Show member pathways
13.68 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
11
Show member pathways
13.6 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
12
Show member pathways
13.57 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
13
Show member pathways
13.46 HRAS KRAS MAP2K1 MAP2K2 MAPK1 RAF1
14
Show member pathways
13.46 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
15
Show member pathways
13.43 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
16
Show member pathways
13.4 HRAS KRAS MAPK1 PTPN11 RAF1 SOS1
17
Show member pathways
13.29 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
18
Show member pathways
13.26 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
19
Show member pathways
13.24 HRAS KRAS MAP2K1 MAP2K2 MAPK1 RAF1
20
Show member pathways
13.24 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1
21
Show member pathways
13.24 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
22
Show member pathways
13.17 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1
23
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
24
Show member pathways
13.16 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
25
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
26
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
27
Show member pathways
13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
28
Show member pathways
13.13 BRAF MAP2K1 MAP2K2 MAPK1 RAF1
29
Show member pathways
13.13 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1
30
Show member pathways
13.13 HRAS KRAS MAP2K1 MAP2K7 MAPK1 RAF1
31
Show member pathways
13.12 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
32
Show member pathways
13.12 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
33
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAPK1 RAF1
34
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
35
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
36
Show member pathways
13.05 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 MAPK1
37
Show member pathways
13.05 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
38
Show member pathways
13 HRAS KRAS MAP2K1 MAP2K2 MAPK1 RAF1
39
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
40
Show member pathways
12.99 MAP2K1 MAP2K2 MAP2K7 MAPK1 PTPN11 RAF1
41 12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
42 12.94 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
43
Show member pathways
12.93 BRAF KRAS MAP2K1 MAP2K2 MAPK1 RAF1
44
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
45
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
46
Show member pathways
12.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
47 12.9 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
48
Show member pathways
12.89 HRAS MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1
49
Show member pathways
12.87 HRAS KRAS MAPK1 PTPN11 SOS1
50
Show member pathways
12.87 HRAS MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1

GO Terms for Cardiofaciocutaneous Syndrome

Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
2 mitochondrion GO:0005739 9.7 BRAF KRAS MAP2K1 MAP2K2 MAPK1 PTPN11
3 focal adhesion GO:0005925 9.67 KRAS MAP2K1 MAP2K2 MAPK1
4 late endosome GO:0005770 9.5 MAP2K1 MAP2K2 MAPK1
5 cytosol GO:0005829 9.44 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
6 pseudopodium GO:0031143 9.26 MAPK1 RAF1

Biological processes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.99 BRAF HRAS KRAS MAP2K1 MAPK1
2 heart development GO:0007507 9.94 MAP2K1 MAPK1 PTPN11 RAF1
3 leukocyte migration GO:0050900 9.93 HRAS KRAS PTPN11 SOS1
4 axon guidance GO:0007411 9.92 HRAS KRAS MAPK1 PTPN11 SOS1
5 Fc-epsilon receptor signaling pathway GO:0038095 9.91 HRAS KRAS MAP2K7 MAPK1 SOS1
6 positive regulation of protein phosphorylation GO:0001934 9.87 HRAS KRAS RAF1
7 activation of MAPK activity GO:0000187 9.87 MAP2K1 MAP2K2 MAPK1 PTPN11
8 T cell receptor signaling pathway GO:0050852 9.86 BRAF HRAS MAPK1
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.86 MAPK1 PTPN11 SHOC2 SPRED1
10 negative regulation of neuron apoptotic process GO:0043524 9.85 BRAF HRAS KRAS
11 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.84 HRAS KRAS RAF1
12 Ras protein signal transduction GO:0007265 9.84 HRAS KRAS SHOC2 SOS1
13 animal organ morphogenesis GO:0009887 9.83 BRAF HRAS MAPK1
14 platelet activation GO:0030168 9.83 MAPK1 PTPN11 RAF1
15 epidermal growth factor receptor signaling pathway GO:0007173 9.8 HRAS KRAS PTPN11 SOS1
16 ERBB2 signaling pathway GO:0038128 9.78 HRAS KRAS SOS1
17 ERK1 and ERK2 cascade GO:0070371 9.75 MAP2K1 MAP2K2 MAPK1
18 thymus development GO:0048538 9.73 BRAF MAP2K1 MAPK1 RAF1
19 neurotrophin TRK receptor signaling pathway GO:0048011 9.72 PTPN11 RAF1 SOS1
20 cellular senescence GO:0090398 9.69 HRAS MAP2K1
21 lung morphogenesis GO:0060425 9.68 MAP2K1 MAPK1
22 positive regulation of Ras protein signal transduction GO:0046579 9.68 HRAS SHOC2
23 intermediate filament cytoskeleton organization GO:0045104 9.67 KRT74 RAF1
24 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 HRAS KRAS
25 positive regulation of telomere capping GO:1904355 9.66 MAP2K7 MAPK1
26 response to isolation stress GO:0035900 9.65 HRAS KRAS
27 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.65 MAP2K1 MAP2K2
28 regulation of stress-activated MAPK cascade GO:0032872 9.65 MAP2K1 MAP2K2 MAPK1
29 regulation of axon regeneration GO:0048679 9.64 BRAF MAP2K1
30 trachea formation GO:0060440 9.63 MAP2K1 MAPK1
31 Bergmann glial cell differentiation GO:0060020 9.63 MAP2K1 MAPK1 PTPN11
32 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 BRAF HRAS MAP2K1 MAP2K2 PTPN11 RAF1
33 ERBB signaling pathway GO:0038127 9.62 MAPK1 PTPN11
34 cerebellar cortex formation GO:0021697 9.61 MAP2K1 PTPN11
35 regulation of early endosome to late endosome transport GO:2000641 9.58 MAP2K1 MAP2K2 MAPK1
36 thyroid gland development GO:0030878 9.56 BRAF MAP2K1 MAPK1 RAF1
37 proteolysis in other organism GO:0035897 9.54 MAP2K1 MAP2K2 MAP2K7
38 regulation of Golgi inheritance GO:0090170 9.5 MAP2K1 MAP2K2 MAPK1
39 MAPK cascade GO:0000165 9.28 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1
40 face development GO:0060324 9.26 BRAF MAP2K1 MAPK1 RAF1
41 signal transduction GO:0007165 10.22 BRAF HRAS KRAS MAP2K1 MAP2K7 MAPK1
42 phosphorylation GO:0016310 10.08 BRAF MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1
43 protein phosphorylation GO:0006468 10.06 BRAF MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1

Molecular functions related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.8 BRAF MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1
2 protein kinase activity GO:0004672 9.73 BRAF MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1
3 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.54 MAP2K1 MAP2K2 MAP2K7
4 small GTPase binding GO:0031267 9.48 BRAF RAF1
5 MAP kinase kinase kinase activity GO:0004709 9.46 BRAF RAF1
6 protein serine/threonine kinase activator activity GO:0043539 9.43 MAP2K1 MAP2K2
7 protein serine/threonine kinase activity GO:0004674 9.43 BRAF MAP2K1 MAP2K2 MAP2K7 MAPK1 RAF1
8 mitogen-activated protein kinase kinase binding GO:0031434 9.4 BRAF RAF1
9 MAP kinase kinase activity GO:0004708 9.33 MAP2K1 MAP2K2 MAP2K7
10 nucleotide binding GO:0000166 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 MAPK1

Sources for Cardiofaciocutaneous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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