SFM
MCID: SCH063
MIFTS: 53

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic (SFM) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 24
Epidermal Nevus Syndrome 24 54 70 27
Jadassohn Nevus Phakomatosis 48 24 70
Organoid Nevus Phakomatosis 48 70 68
Nevus Sebaceus of Jadassohn 48 54 70
Sfm Syndrome 48 24 70
Schimmelpenning-Feuerstein-Mims Syndrome 52 70
Linear Sebaceous Nevus Syndrome 24 70
Schimmelpenning Syndrome 54 70
Solomon Syndrome 54 70
Jnp 48 70
 
Schimmelpenning Feuerstein Mims Syndrome 48
Linear Nevus Sebaceous Syndrome 48
Sebaceous Nevus Syndrome Linear 48
Linear Nevus Sebaceus Syndrome 54
Nevus, Sebaceous of Jadassohn 39
Epidermal Hamartoma Syndrome 54
Nevus Sebaceus Syndrome 54
Organoid Nevus Syndrome 54
Nevus Sebaceous 68
Sfm 70
Ss 70

Characteristics:

Orphanet epidemiological data:

54
nevus sebaceus of jadassohn:
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age
epidermal nevus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

64
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance: somatic mosaicism, sporadic

Classifications:



External Ids:

OMIM52 163200
ICD10 via Orphanet31 Q85.8
MESH via Orphanet40 C536114, D054000
UMLS via Orphanet69 C0334082
MedGen37 C0265318
MeSH39 D054000

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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NIH Rare Diseases:48 Linear nevus sebaceous syndrome (lnss) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (cns). the nevus usually is located on the face, scalp, or neck. the most common cns abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). various other cns abnormalities have been reported. other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. lnss is not inherited (it is sporadic). it can be caused by a somatic mutation in any of several genes. mutations that cause lnss occur after fertilization and are only present in some body cells (mosaicism). treatment is directed towards the specific symptoms in each person. last updated: 1/4/2017

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as epidermal nevus syndrome, is related to segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome and sickle cell anemia, and has symptoms including seizures, Array and Array. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are CNTF Signaling and MET promotes cell motility. Affiliated tissues include bone, eye and brain, and related mouse phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased cell migration.

OMIM:52 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

UniProtKB/Swiss-Prot:70 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.0
2sickle cell anemia11.5
3epidermal nevus, somatic11.2
4sjogren's syndrome11.1
5didymosis aplasticosebacea11.0
6neutrophilic dermatosis, acute febrile10.8
7serotonin syndrome10.8
8mental retardation-hypotonic facies syndrome, x-linked10.8
9mental retardation smith fineman myers type10.8
10syringocystadenoma papilliferum10.4
11phacomatosis pigmentokeratotica10.3
12lupus erythematosus10.2
13adenoma10.2
14acute hemorrhagic encephalitis10.1HRAS, NRAS
15parotid gland adenoid cystic carcinoma10.1HRAS, NRAS
16tubulointerstitial nephritis with uveitis10.1HRAS, NRAS
17infertility10.1HRAS, NRAS
18vulval paget's disease10.1HRAS, NRAS
19nephrolithiasis10.1HRAS, NRAS
20gallbladder pleomorphic giant cell adenocarcinoma10.1HRAS, NRAS
21adult epithelioid sarcoma10.1HRAS, NRAS
22neurocutaneous melanosis, somatic10.1HRAS, NRAS
23vaginal yolk sac tumor10.1HRAS, NRAS
24retroperitoneal leiomyosarcoma10.1HRAS, NRAS
25nelson syndrome10.0HRAS, NRAS
26systemic lupus erythematosus10.0
27cutaneous lupus erythematosus10.0
28malignant skin fibrous histiocytoma10.0HRAS, KRAS
29rickets10.0
30hemimegalencephaly10.0
31megalencephaly10.0
32chronic venous insufficiency10.0HRAS, KRAS
33severe pre-eclampsia10.0HRAS, KRAS
34epidermodysplasia verruciformis10.0
35mucositis10.0
36squamous cell carcinoma10.0
37nodular hidradenoma10.0
38basal cell carcinoma10.0
39apocrine adenoma10.0
40hidradenoma10.0
41mucoepidermoid carcinoma10.0
42spiradenoma10.0
43ceruminoma10.0
44bile duct disease10.0HRAS, KRAS
45postpoliomyelitis syndrome10.0HRAS, KRAS
46precursor t-lymphoblastic lymphoma/leukemia10.0HRAS, KRAS
47syndactyly-polydactyly-earlobe syndrome10.0HRAS, KRAS
48gonococcal seminal vesiculitis10.0HRAS, KRAS
49pelvic inflammatory disease10.0HRAS, KRAS
50kidney clear cell sarcoma10.0HRAS, KRAS

Graphical network of the top 20 diseases related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:



Diseases related to schimmelpenning-feuerstein-mims syndrome, somatic mosaic

Symptoms & Phenotypes for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

 54 64 (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput64 54 Very frequent (99-80%) HP:0000269
2 facial asymmetry64 54 Frequent (79-30%) HP:0000324
3 abnormality of the eye54 Frequent (79-30%)
4 abnormality of vision64 54 Frequent (79-30%) HP:0000504
5 telecanthus64 54 Very frequent (99-80%) HP:0000506
6 microphthalmia64 54 Very frequent (99-80%) HP:0000568
7 iris coloboma64 54 Very frequent (99-80%) HP:0000612
8 melanocytic nevus64 54 Very frequent (99-80%) HP:0000995
9 cavernous hemangioma64 54 Very frequent (99-80%) HP:0001048
10 intellectual disability64 54 Very frequent (99-80%) HP:0001249
11 seizures64 54 Very frequent (99-80%) HP:0001250
12 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
13 dandy-walker malformation64 54 Occasional (29-5%) HP:0001305
14 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
15 hyperreflexia64 54 Very frequent (99-80%) HP:0001347
16 plagiocephaly64 54 Frequent (79-30%) HP:0001357
17 growth delay64 54 Occasional (29-5%) HP:0001510
18 alopecia64 54 Very frequent (99-80%) HP:0001596
19 frontal bossing64 54 Very frequent (99-80%) HP:0002007
20 ventriculomegaly54 Very frequent (99-80%)
21 porencephaly64 54 Frequent (79-30%) HP:0002132
22 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
23 cerebral calcification64 54 Occasional (29-5%) HP:0002514
24 genu recurvatum64 54 Very frequent (99-80%) HP:0002816
25 vertebral segmentation defect64 54 Very frequent (99-80%) HP:0003422
26 biparietal narrowing64 54 Very frequent (99-80%) HP:0004422
27 aplasia/hypoplasia of the cerebellum64 54 Very frequent (99-80%) HP:0007360
28 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
29 irregular hyperpigmentation64 54 Frequent (79-30%) HP:0007400
30 adenoma sebaceum64 54 Very frequent (99-80%) HP:0009720
31 asymmetric growth64 54 Very frequent (99-80%) HP:0100555
32 nevus54 Very frequent (99-80%)
33 hyperpigmentation of the skin54 Frequent (79-30%)
34 hypopigmentation of the skin64 54 Frequent (79-30%) HP:0001010
35 spinal cord compression54 Frequent (79-30%)
36 spinal canal stenosis54 Frequent (79-30%)
37 atrophy of the spinal cord54 Frequent (79-30%)
38 progressive spastic paraparesis54 Frequent (79-30%)
39 pain54 Frequent (79-30%)
40 astigmatism54 Occasional (29-5%)
41 visual impairment54 Occasional (29-5%)
42 delayed speech and language development54 Occasional (29-5%)
43 global developmental delay54 Occasional (29-5%)
44 hypertonia54 Occasional (29-5%)
45 areflexia54 Occasional (29-5%)
46 thoracolumbar scoliosis54 Occasional (29-5%)
47 babinski sign54 Occasional (29-5%)
48 weakness of long finger extensor muscles54 Occasional (29-5%)
49 spinal cord tumor54 Occasional (29-5%)
50 lipoma54 Occasional (29-5%)
51 abnormality of brain morphology54 Occasional (29-5%)
52 polycystic kidney dysplasia54 Very rare (<4-1%)
53 osteopenia64 54 Very rare (<4-1%) HP:0000938
54 abnormal facial shape54 Very rare (<4-1%)
55 rhabdomyosarcoma54 Very rare (<4-1%)
56 vitamin d deficiency54 Very rare (<4-1%)
57 horseshoe kidney64 HP:0000085
58 cranial asymmetry64 HP:0000267
59 coloboma64 HP:0000589
60 ophthalmoplegia64 HP:0000602
61 precocious puberty64 HP:0000826
62 hemangioma64 HP:0001028
63 abnormality of finger64 HP:0001167
64 overgrowth64 HP:0001548
65 coarctation of aorta64 HP:0001680
66 abnormality of toe64 HP:0001780
67 basal cell carcinoma64 HP:0002671
68 kyphoscoliosis64 HP:0002751
69 recurrent fractures64 HP:0002757
70 hyperphosphaturia64 HP:0003109
71 short stature64 HP:0004322
72 hypophosphatemic rickets64 HP:0004912
73 abnormality of dental morphology64 HP:0006482
74 hemimegalencephaly64 HP:0007206
75 corneal opacity64 HP:0007957
76 ichthyosis64 HP:0008064
77 nevus sebaceous64 HP:0010815
78 abnormality of dental color64 HP:0011073

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:


seizures

GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00210-A9.2FGFR3, HRAS, NRAS
2GR00055-A-19.0FGFR3, HRAS, KRAS
3GR00366-A-1928.5FGFR3, KRAS, NRAS
4GR00381-A-14.8FGFR3, HRAS, KRAS, NRAS, FGFR3, HRAS

MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5FGFR3, HRAS, KRAS, NRAS
2MP:00020068.5FGFR3, HRAS, KRAS, NRAS
3MP:00028738.2FGFR3, HRAS, KRAS, NRAS
4MP:00107718.1FGFR3, HRAS, KRAS, NRAS
5MP:00030128.1FGFR3, HRAS, KRAS, NRAS

Drugs & Therapeutics for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Drugs for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 21617
2ImmunoglobulinsPhase 26394
3Immunoglobulin GPhase 2275
4Antibodies, MonoclonalPhase 24039
5AntibodiesPhase 26394

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeActive, not recruitingNCT02722798Phase 2
2Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)Active, not recruitingNCT02304367Phase 2

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic


Cochrane evidence based reviews: nevus, sebaceous of jadassohn

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Genetic tests related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

id Genetic test Affiliating Genes
1 Epidermal Nevus Syndrome27
2 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic24 HRAS, KRAS, NRAS

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

36
Bone, Eye, Brain, Tongue, Heart, Skin, Spinal cord

Publications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

70
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817rs104894228

Clinvar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_ 004985.4(KRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2HRASNM_ 005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
3HRASNM_ 005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
4PIK3CANM_ 006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)SNVPathogenic/ Likely pathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
5NRASNM_ 002524.4(NRAS): c.182A> G (p.Gln61Arg)SNVPathogenic/ Likely pathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
6FGFR3NM_ 000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenic/ Likely pathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
7FGFR3NM_ 000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
8FGFR3NM_ 000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenic/ Likely pathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
9HRASNM_ 005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenic/ Likely pathogenicrs104894228GRCh37Chr 11, 534286: 534286
10NRASNM_ 002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
11NRASNM_ 002524.4(NRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

Expression for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Search GEO for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic.

Pathways for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

(show top 50)    (show all 125)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5HRAS, KRAS, NRAS
2
Show member pathways
8.5HRAS, KRAS, NRAS
3
Show member pathways
8.5HRAS, KRAS, NRAS
4
Show member pathways
8.5HRAS, KRAS, NRAS
5
Show member pathways
8.5HRAS, KRAS, NRAS
6
Show member pathways
8.5HRAS, KRAS, NRAS
7
Show member pathways
8.5HRAS, KRAS, NRAS
8
Show member pathways
8.5HRAS, KRAS, NRAS
9
Show member pathways
8.5HRAS, KRAS, NRAS
10
Show member pathways
8.5HRAS, KRAS, NRAS
11
Show member pathways
8.5HRAS, KRAS, NRAS
12
Show member pathways
8.5HRAS, KRAS, NRAS
138.5HRAS, KRAS, NRAS
148.5HRAS, KRAS, NRAS
15
Show member pathways
8.5HRAS, KRAS, NRAS
16
Show member pathways
8.5HRAS, KRAS, NRAS
178.5HRAS, KRAS, NRAS
18
Show member pathways
8.5HRAS, KRAS, NRAS
19
Show member pathways
8.5HRAS, KRAS, NRAS
20
Show member pathways
8.5HRAS, KRAS, NRAS
21
Show member pathways
8.5HRAS, KRAS, NRAS
22
Show member pathways
8.5HRAS, KRAS, NRAS
23
Show member pathways
8.5HRAS, KRAS, NRAS
24
Show member pathways
8.5HRAS, KRAS, NRAS
258.5HRAS, KRAS, NRAS
26
Show member pathways
8.5HRAS, KRAS, NRAS
278.5HRAS, KRAS, NRAS
28
Show member pathways
8.5HRAS, KRAS, NRAS
29
Show member pathways
8.5HRAS, KRAS, NRAS
30
Show member pathways
8.5HRAS, KRAS, NRAS
31
Show member pathways
8.5HRAS, KRAS, NRAS
32
Show member pathways
8.5HRAS, KRAS, NRAS
33
Show member pathways
8.5HRAS, KRAS, NRAS
34
Show member pathways
8.5HRAS, KRAS, NRAS
35
Show member pathways
8.5HRAS, KRAS, NRAS
36
Show member pathways
8.5HRAS, KRAS, NRAS
37
Show member pathways
8.5HRAS, KRAS, NRAS
38
Show member pathways
8.5HRAS, KRAS, NRAS
39
Show member pathways
8.5HRAS, KRAS, NRAS
40
Show member pathways
8.5HRAS, KRAS, NRAS
41
Show member pathways
8.5HRAS, KRAS, NRAS
42
Show member pathways
8.5HRAS, KRAS, NRAS
43
Show member pathways
8.5HRAS, KRAS, NRAS
44
Show member pathways
8.5HRAS, KRAS, NRAS
45
Show member pathways
8.5HRAS, KRAS, NRAS
46
Show member pathways
8.5HRAS, KRAS, NRAS
47
Show member pathways
8.5HRAS, KRAS, NRAS
48
Show member pathways
8.5HRAS, KRAS, NRAS
49
Show member pathways
8.5HRAS, KRAS, NRAS
50
Show member pathways
8.5HRAS, KRAS, NRAS

GO Terms for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPK cascadeGO:004341010.1FGFR3, HRAS
2positive regulation of MAP kinase activityGO:00434069.8HRAS, KRAS
3regulation of long-term neuronal synaptic plasticityGO:00481699.8HRAS, KRAS
4response to isolation stressGO:00359009.8HRAS, KRAS
5positive regulation of cell proliferationGO:00082849.3FGFR3, HRAS, KRAS
6axon guidanceGO:00074119.2HRAS, KRAS, NRAS
7epidermal growth factor receptor signaling pathwayGO:00071739.2HRAS, KRAS, NRAS
8ERBB2 signaling pathwayGO:00381289.2HRAS, KRAS, NRAS
9Fc-epsilon receptor signaling pathwayGO:00380959.2HRAS, KRAS, NRAS
10leukocyte migrationGO:00509009.2HRAS, KRAS, NRAS
11Ras protein signal transductionGO:00072659.1HRAS, KRAS, NRAS
12small GTPase mediated signal transductionGO:00072649.1HRAS, KRAS, NRAS
13MAPK cascadeGO:00001658.7FGFR3, HRAS, KRAS, NRAS
14stimulatory C-type lectin receptor signaling pathwayGO:00022238.5HRAS, KRAS, NRAS

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:00190039.8HRAS, KRAS
2GTP bindingGO:00055259.2HRAS, KRAS, NRAS
3GTPase activityGO:00039249.1HRAS, KRAS, NRAS
4nucleotide bindingGO:00001668.0FGFR3, HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet