CFC1
MCID: CRD224
MIFTS: 64

Cardiofaciocutaneous Syndrome 1 (CFC1)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 1

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:

Name: Cardiofaciocutaneous Syndrome 1 57 75 29 6
Cardiofaciocutaneous Syndrome 57 12 76 24 53 25 59 37 13 15
Cfc Syndrome 57 12 24 53 25 59 75 55
Cardio-Facio-Cutaneous Syndrome 53 25 75 29 6
Cfc1 57 75
Cfcs 57 75
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 53
Cardiofaciocutaneous Syndrome, Type 1 40
Cardio-Facial-Cutaneous Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
associated with advanced paternal age
most cases are sporadic
autosomal dominant transmission has been rarely reported
phenotypic similarities to noonan syndrome
phenotypic similarities to costello syndrome


HPO:

32
cardiofaciocutaneous syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in cfc syndrome...

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 1

OMIM : 57 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011). Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; 163950) and Costello syndrome (218040). (115150)

MalaCards based summary : Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to costello syndrome and noonan syndrome 1. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAPK signaling pathway and Signaling by GPCR. Affiliated tissues include heart, skin and bone, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

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.

Wikipedia : 76 Cardiofaciocutaneous (CFC) syndrome is an extremely rare and serious genetic... more...

GeneReviews: NBK1186

Related Diseases for Cardiofaciocutaneous Syndrome 1

Diseases in the Cardiofaciocutaneous Syndrome 1 family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4

Diseases related to Cardiofaciocutaneous Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 costello syndrome 30.7 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
2 noonan syndrome 1 24.5 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
3 cardiofaciocutaneous syndrome 3 12.3
4 heterotaxy 11.5
5 heart disease 11.4
6 double outlet right ventricle 11.4
7 heterotaxy, visceral, 2, autosomal 11.2
8 visceral heterotaxy 11.1
9 cardiofaciocutaneous syndrome 2 11.0
10 dextro-looped transposition of the great arteries 11.0
11 heart septal defect 11.0
12 conotruncal heart malformations 10.8
13 atrial heart septal defect 10.8
14 biliary atresia with splenic malformation syndrome 10.8
15 isolated congenitally uncorrected transposition of the great arteries 10.8
16 congenitally uncorrected transposition of the great arteries with cardiac malformation 10.8
17 congenitally uncorrected transposition of the great arteries with coarctation 10.8
18 hyperplastic polyposis syndrome 10.7 BRAF KRAS
19 syringocystadenoma papilliferum 10.7 BRAF KRAS
20 sigmoid neoplasm 10.7 HRAS KRAS
21 lentigines 10.6 BRAF PTPN11
22 spitz nevus 10.6 BRAF HRAS
23 apocrine adenoma 10.6 HRAS KRAS
24 schimmelpenning-feuerstein-mims syndrome 10.6 HRAS KRAS
25 periampullary adenoma 10.6 HRAS KRAS
26 mature teratoma 10.6 BRAF KRAS
27 neurofibromatosis-noonan syndrome 10.6 MAP2K2 PTPN11
28 noonan syndrome with multiple lentigines 10.6 BRAF PTPN11
29 colonic benign neoplasm 10.6 BRAF KRAS
30 bile duct cysts 10.6 HRAS KRAS
31 ovarian melanoma 10.6 HRAS MAP2K1
32 villous adenoma 10.5 BRAF KRAS
33 aggressive digital papillary adenocarcinoma 10.5 HRAS KRAS
34 secondary hypertrophic osteoarthropathy 10.5 HRAS KRAS
35 villonodular synovitis 10.5 PTPN11 SOS1
36 nasal cavity adenocarcinoma 10.5 HRAS KRAS
37 anal canal adenocarcinoma 10.5 HRAS KRAS
38 autosomal dominant café au lait spots 10.5 PTPN11 SPRED1
39 ovary serous adenocarcinoma 10.5 HRAS KRAS
40 pseudo-turner syndrome 10.4
41 pulmonary valve stenosis 10.4 PTPN11 SOS1
42 ampulla of vater neoplasm 10.4 HRAS KRAS
43 myelodysplastic myeloproliferative cancer 10.4 HRAS PTPN11
44 ovarian cystadenocarcinoma 10.4 HRAS KRAS
45 refractory hairy cell leukemia 10.4 BRAF MAP2K7
46 skin squamous cell carcinoma 10.4 BRAF HRAS KRAS
47 lung adenoid cystic carcinoma 10.3 HRAS KRAS
48 colorectal adenocarcinoma 10.3 BRAF HRAS KRAS
49 differentiated thyroid carcinoma 10.3 BRAF HRAS KRAS
50 nevus, epidermal 10.3 HRAS KRAS

Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome 1:



Diseases related to Cardiofaciocutaneous Syndrome 1

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
myopia
more
Chest External Features:
pectus excavatum
pectus carinatum

Neurologic Central Nervous System:
hydrocephalus
seizures
hypertonia
hypotonia
mild to moderate mental retardation
more
Growth Other:
failure to thrive

Head And Neck Face:
coarse facial features
prominent forehead
micrognathia
prominent philtrum
bitemporal narrowing
more
Head And Neck Nose:
depressed nasal bridge
short upturned nose
bulbous nasal tip

Skin Nails Hair Skin:
ichthyosis
cavernous hemangioma
multiple lentigines
multiple palmar creases
severe atopic dermatitis
more
Head And Neck Head:
dolichocephaly
macrocephaly, relative

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
slow-growing hair
absence of eyebrows
absence of eyelashes
sparse, curly hair

Growth Height:
short stature, postnatal

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy (uncommon)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss
earlobe creases

Skeletal Hands:
clinodactyly
multiple palmar creases
hyperextensible fingers

Skeletal:
osteopenia
delayed bone age
joint hyperextensibility

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
vomiting
poor feeding
dysmotility

AbdomenSpleen:
splenomegaly

Head And Neck Teeth:
open bite
malocclusion
posterior crossbite

Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
atrial septal defects

Head And Neck Mouth:
open mouth
tongue thrusting
high-arched palate
submucous cleft palate

Genitourinary Kidneys:
hydronephrosis

Skeletal Feet:
multiple plantar creases

Prenatal Manifestations Delivery:
premature delivery


Clinical features from OMIM:

115150

Human phenotypes related to Cardiofaciocutaneous Syndrome 1:

59 32 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
7 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
8 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
9 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
10 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
11 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
13 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
14 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
15 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
16 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
17 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
18 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
19 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
20 abnormality of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0002997
21 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
22 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
23 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
24 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
25 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
26 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
27 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
28 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
29 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
30 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
31 hyperkeratosis 59 32 Frequent (79-30%) HP:0000962
32 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
33 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
34 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
35 cavernous hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001048
36 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
37 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
38 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
39 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
40 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
41 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
42 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
43 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
44 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
45 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
46 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
47 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
48 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
49 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
50 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276

GenomeRNAi Phenotypes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 KRAS BRAF HRAS
2 Decreased viability GR00106-A-0 10.09 KRAS
3 Decreased viability GR00221-A-1 10.09 KRAS HRAS
4 Decreased viability GR00221-A-2 10.09 KRAS HRAS
5 Decreased viability GR00221-A-3 10.09 HRAS
6 Decreased viability GR00221-A-4 10.09 BRAF
7 Decreased viability GR00301-A 10.09 KRAS BRAF
8 Decreased viability GR00381-A-1 10.09 KRAS BRAF
9 Decreased viability GR00402-S-2 10.09 KRAS BRAF HRAS
10 Decreased cell migration GR00055-A-1 9.72 MAP2K2 BRAF SOS1 HRAS KRAS
11 Decreased substrate adherent cell growth GR00193-A-2 9.65 MAP2K7
12 Decreased substrate adherent cell growth GR00193-A-3 9.65 MAP2K2 MAP2K7 BRAF
13 Decreased substrate adherent cell growth GR00193-A-4 9.65 BRAF
14 Increased cell migration GR00055-A-3 9.26 BRAF SOS1 HRAS KRAS
15 Reduced mammosphere formation GR00396-S 9.1 KRAS BRAF PTPN11 SHOC2 SOS1 HRAS

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 SHOC2 SOS1 HRAS MAP2K1 BRAF KRAS
2 craniofacial MP:0005382 10.2 SPRED1 SOS1 BRAF KRAS HRAS MAP2K1
3 growth/size/body region MP:0005378 10.19 SPRED1 SHOC2 SOS1 HRAS MAP2K1 BRAF
4 cellular MP:0005384 10.16 SOS1 RASA1 BRAF KRAS PTPN11 MAP2K2
5 digestive/alimentary MP:0005381 10.14 SOS1 MAP2K1 BRAF KRAS HRAS RASA1
6 endocrine/exocrine gland MP:0005379 10.11 SOS1 HRAS BRAF KRAS MAP2K2 MAP2K7
7 homeostasis/metabolism MP:0005376 10.11 SOS1 SHOC2 HRAS BRAF KRAS PTPN11
8 mortality/aging MP:0010768 10.1 SOS1 SHOC2 HRAS BRAF KRAS PTPN11
9 integument MP:0010771 10.09 SHOC2 SOS1 MAP2K1 BRAF KRAS HRAS
10 embryo MP:0005380 10.07 SOS1 SHOC2 BRAF KRAS PTPN11 RASA1
11 nervous system MP:0003631 9.97 SOS1 SPRED1 HRAS BRAF KRAS RASA1
12 hearing/vestibular/ear MP:0005377 9.95 MAP2K1 BRAF KRAS MAP2K2 RASA1 PTPN11
13 neoplasm MP:0002006 9.91 HRAS MAP2K1 BRAF KRAS MAP2K7 PTPN11
14 normal MP:0002873 9.86 SHOC2 HRAS MAP2K1 BRAF KRAS MAP2K7
15 respiratory system MP:0005388 9.63 SPRED1 SHOC2 HRAS BRAF KRAS PTPN11
16 skeleton MP:0005390 9.56 SOS1 HRAS MAP2K1 BRAF KRAS MAP2K2
17 vision/eye MP:0005391 9.17 SOS1 BRAF KRAS PTPN11 MAP2K2 MAP2K7

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 1

Genetic Tests for Cardiofaciocutaneous Syndrome 1

Genetic tests related to Cardiofaciocutaneous Syndrome 1:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 1 29 BRAF
2 Cardio-Facio-Cutaneous Syndrome 29

Anatomical Context for Cardiofaciocutaneous Syndrome 1

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:

41
Heart, Skin, Bone, Brain, Eye, Tongue

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show all 40)
# Title Authors Year
1
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. ( 28524057 )
2017
2
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis. ( 28207016 )
2017
3
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. ( 27149079 )
2016
4
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder. ( 28050463 )
2016
5
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment. ( 27680485 )
2016
6
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. ( 26842671 )
2016
7
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. ( 25827862 )
2015
8
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. ( 26242988 )
2015
9
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. ( 26225596 )
2015
10
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. ( 25514835 )
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
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). ( 24166813 )
2013
17
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. ( 24303953 )
2013
18
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. ( 24283439 )
2013
19
Cardiofaciocutaneous syndrome. ( 24600094 )
2013
20
Cardiofaciocutaneous syndrome: a rare entity. ( 22837569 )
2012
21
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. ( 21178588 )
2011
22
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. ( 20523244 )
2011
23
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. ( 21062266 )
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
The cardiofaciocutaneous syndrome: prenatal findings in two patients. ( 18022830 )
2008
29
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. ( 18773675 )
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 with new ectodermal manifestations. ( 1619641 )
1992
40
Cardiofaciocutaneous syndrome. ( 1342862 )
1992

Variations for Cardiofaciocutaneous Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 1:

75 (show all 24)
# 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 rs121913375
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 1:

6
(show top 50) (show all 335)
# 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.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh38 Chromosome 19, 4117552: 4117552
3 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh37 Chromosome 19, 4117551: 4117551
4 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh38 Chromosome 19, 4117553: 4117553
5 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh37 Chromosome 19, 4110557: 4110557
6 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh38 Chromosome 19, 4110559: 4110559
7 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh37 Chromosome 19, 4110574: 4110574
8 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh38 Chromosome 19, 4110576: 4110576
9 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
10 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
11 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh37 Chromosome 15, 66727442: 66727442
12 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh38 Chromosome 15, 66435104: 66435104
13 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh37 Chromosome 15, 66729181: 66729181
14 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh38 Chromosome 15, 66436843: 66436843
15 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Likely pathogenic rs121908596 GRCh37 Chromosome 15, 66729175: 66729175
16 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Likely pathogenic rs121908596 GRCh38 Chromosome 15, 66436837: 66436837
17 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
18 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh38 Chromosome 7, 140753336: 140753336
19 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 NCBI36 Chromosome 7, 140099605: 140099605
20 BRAF NM_004333.4(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh37 Chromosome 7, 140501336: 140501336
21 BRAF NM_004333.4(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh38 Chromosome 7, 140801536: 140801536
22 BRAF NM_004333.4(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh37 Chromosome 7, 140501302: 140501302
23 BRAF NM_004333.4(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh38 Chromosome 7, 140801502: 140801502
24 BRAF NM_004333.4(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 GRCh37 Chromosome 7, 140481402: 140481402
25 BRAF NM_004333.4(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 GRCh38 Chromosome 7, 140781602: 140781602
26 BRAF NM_004333.4(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 GRCh37 Chromosome 7, 140477853: 140477853
27 BRAF NM_004333.4(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 GRCh38 Chromosome 7, 140778053: 140778053
28 BRAF NM_004333.4(BRAF): c.1495A> G (p.Lys499Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177037 GRCh37 Chromosome 7, 140477813: 140477813
29 BRAF NM_004333.4(BRAF): c.1495A> G (p.Lys499Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177037 GRCh38 Chromosome 7, 140778013: 140778013
30 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh37 Chromosome 7, 140477807: 140477807
31 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh38 Chromosome 7, 140778007: 140778007
32 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
33 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
34 BRAF NM_004333.4(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 GRCh37 Chromosome 7, 140453987: 140453987
35 BRAF NM_004333.4(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 GRCh38 Chromosome 7, 140754187: 140754187
36 BRAF NM_004333.4(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 GRCh37 Chromosome 7, 140476806: 140476806
37 BRAF NM_004333.4(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 GRCh38 Chromosome 7, 140777006: 140777006
38 BRAF NM_004333.4(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh37 Chromosome 7, 140449165: 140449165
39 BRAF NM_004333.4(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh38 Chromosome 7, 140749365: 140749365
40 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
41 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
42 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
43 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
44 BRAF NM_004333.4(BRAF): c.730A> C (p.Thr244Pro) single nucleotide variant Pathogenic rs397507465 GRCh37 Chromosome 7, 140501342: 140501342
45 BRAF NM_004333.4(BRAF): c.730A> C (p.Thr244Pro) single nucleotide variant Pathogenic rs397507465 GRCh38 Chromosome 7, 140801542: 140801542
46 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
47 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
48 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
49 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
50 BRAF NM_004333.4(BRAF): c.1403T> C (p.Phe468Ser) single nucleotide variant Pathogenic rs397507473 GRCh37 Chromosome 7, 140481405: 140481405

Expression for Cardiofaciocutaneous Syndrome 1

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 1.

Pathways for Cardiofaciocutaneous Syndrome 1

Pathways related to Cardiofaciocutaneous Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.18 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
2
Show member pathways
14.09 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
3
Show member pathways
13.89 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
4
Show member pathways
13.89 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
5
Show member pathways
13.79 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
6
Show member pathways
13.78 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
7
Show member pathways
13.71 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8
Show member pathways
13.58 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
9
Show member pathways
13.57 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
10
Show member pathways
13.56 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
11
Show member pathways
13.48 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
12
Show member pathways
13.46 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
13
Show member pathways
13.34 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
14
Show member pathways
13.16 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
15
Show member pathways
13.14 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
16
Show member pathways
13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
17
Show member pathways
13.13 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
18
Show member pathways
13.1 HRAS KRAS MAP2K1 MAP2K2 SOS1
19
Show member pathways
13.08 BRAF HRAS KRAS MAP2K1 MAP2K2
20
Show member pathways
13.06 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 RASA1
21
Show member pathways
13.05 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
22
Show member pathways
13.04 HRAS KRAS MAP2K1 MAP2K2 SOS1
23
Show member pathways
13.04 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
24
Show member pathways
13.04 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
25
Show member pathways
13.04 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
26
Show member pathways
13.03 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
27
Show member pathways
13.01 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
28
Show member pathways
12.99 HRAS KRAS MAP2K1 MAP2K7 SOS1
29
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
30 12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
31
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 SPRED1
32
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 SOS1
33
Show member pathways
12.95 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
34
Show member pathways
12.94 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
35
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 RASA1
36
Show member pathways
12.91 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
37
Show member pathways
12.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
38 12.86 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
39
Show member pathways
12.84 BRAF HRAS KRAS MAP2K1 MAP2K2
40
Show member pathways
12.83 HRAS KRAS MAP2K1 MAP2K2
41
Show member pathways
12.82 MAP2K1 MAP2K2 MAP2K7 PTPN11
42
Show member pathways
12.82 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
43
Show member pathways
12.82 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
44
Show member pathways
12.82 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
45
Show member pathways
12.78 BRAF KRAS MAP2K1 MAP2K2 SOS1
46 12.78 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
47
Show member pathways
12.77 HRAS KRAS PTPN11 SOS1
48
Show member pathways
12.75 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
49
Show member pathways
12.73 HRAS MAP2K1 MAP2K2 PTPN11 RASA1 SOS1
50
Show member pathways
12.72 HRAS KRAS PTPN11 RASA1 SOS1

GO Terms for Cardiofaciocutaneous Syndrome 1

Cellular components related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.81 BRAF HRAS KRAS MAP2K1 MAP2K2 RASA1
2 cytoplasm GO:0005737 9.7 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
3 cytosol GO:0005829 9.4 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2

Biological processes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.94 BRAF HRAS KRAS MAP2K1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 BRAF HRAS MAP2K1 PTPN11
3 leukocyte migration GO:0050900 9.84 HRAS KRAS PTPN11 SOS1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.83 MAP2K1 MAP2K2 MAP2K7
5 axon guidance GO:0007411 9.83 HRAS KRAS PTPN11 SOS1
6 regulation of mitotic cell cycle GO:0007346 9.8 MAP2K1 MAP2K2 MAP2K7
7 activation of protein kinase activity GO:0032147 9.8 MAP2K1 MAP2K2 MAP2K7
8 ephrin receptor signaling pathway GO:0048013 9.79 HRAS PTPN11 RASA1
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 PTPN11 SHOC2 SPRED1
10 Fc-epsilon receptor signaling pathway GO:0038095 9.78 HRAS KRAS MAP2K7 SOS1
11 signal transduction by protein phosphorylation GO:0023014 9.76 MAP2K1 MAP2K2 MAP2K7
12 stress-activated protein kinase signaling cascade GO:0031098 9.69 MAP2K1 MAP2K2 MAP2K7
13 homeostasis of number of cells within a tissue GO:0048873 9.67 KRAS PTPN11
14 ERK1 and ERK2 cascade GO:0070371 9.67 MAP2K1 MAP2K2
15 blood vessel morphogenesis GO:0048514 9.67 RASA1 SOS1
16 negative regulation of neuron apoptotic process GO:0043524 9.67 BRAF HRAS KRAS RASA1
17 thyroid gland development GO:0030878 9.66 BRAF MAP2K1
18 cellular senescence GO:0090398 9.65 HRAS MAP2K1
19 regulation of long-term neuronal synaptic plasticity GO:0048169 9.65 HRAS KRAS
20 positive regulation of Ras protein signal transduction GO:0046579 9.65 HRAS SHOC2
21 face development GO:0060324 9.64 BRAF MAP2K1
22 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 PTPN11 SOS1
23 activation of MAPK activity GO:0000187 9.62 MAP2K1 MAP2K2 MAP2K7 PTPN11
24 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAP2K1 MAP2K2
25 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.6 MAP2K1 MAP2K2
26 Bergmann glial cell differentiation GO:0060020 9.59 MAP2K1 PTPN11
27 regulation of early endosome to late endosome transport GO:2000641 9.58 MAP2K1 MAP2K2
28 ERBB2 signaling pathway GO:0038128 9.58 HRAS KRAS SOS1
29 regulation of axon regeneration GO:0048679 9.57 BRAF MAP2K1
30 response to isolation stress GO:0035900 9.56 HRAS KRAS
31 Ras protein signal transduction GO:0007265 9.56 HRAS KRAS SHOC2 SOS1
32 regulation of Golgi inheritance GO:0090170 9.49 MAP2K1 MAP2K2
33 epidermal growth factor receptor signaling pathway GO:0007173 9.46 HRAS KRAS PTPN11 SOS1
34 cerebellar cortex formation GO:0021697 9.43 MAP2K1 PTPN11
35 MAPK cascade GO:0000165 9.23 BRAF HRAS KRAS MAP2K1 MAP2K2 RASA1
36 proteolysis in other organism GO:0035897 9.13 MAP2K1 MAP2K2 MAP2K7
37 signal transduction GO:0007165 10.06 BRAF HRAS KRAS MAP2K1 MAP2K7 RASA1

Molecular functions related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.62 BRAF MAP2K1 MAP2K2 MAP2K7
2 protein serine/threonine kinase activity GO:0004674 9.46 BRAF MAP2K1 MAP2K2 MAP2K7
3 protein tyrosine kinase activity GO:0004713 9.43 MAP2K1 MAP2K2 MAP2K7
4 protein serine/threonine/tyrosine kinase activity GO:0004712 9.4 MAP2K1 MAP2K2
5 protein serine/threonine kinase activator activity GO:0043539 9.37 MAP2K1 MAP2K2
6 nucleotide binding GO:0000166 9.35 BRAF HRAS KRAS MAP2K1 MAP2K2
7 MAP kinase kinase activity GO:0004708 8.8 MAP2K1 MAP2K2 MAP2K7

Sources for Cardiofaciocutaneous Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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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
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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