MCID: PLG004
MIFTS: 45

Plagiocephaly malady

Rare diseases category

Summaries for Plagiocephaly

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66Wikipedia, 34MalaCards
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Wikipedia:66 Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical... more...

MalaCards: Plagiocephaly is related to synostosis and strabismus. An important gene associated with Plagiocephaly is TWIST1 (twist family bHLH transcription factor 1), and among its related pathways are Notch-mediated HES/HEY network and Endochondral Ossification. The compounds thalidomide and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and eye, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Aliases & Classifications for Plagiocephaly

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44NIH Rare Diseases, 26ICD10
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Related Diseases for Plagiocephaly

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18GeneCards, 19GeneDecks
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Diseases related to Plagiocephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis30.8FGFR3, FGFR1, TWIST1, FGFR2
2strabismus30.5FGFR3, FGFR2
3craniosynostosis30.4TWIST1, FGFR3, FGFR2, FGFR1
4crouzon syndrome29.8FGFR1, FGFR3, FGFR2
5muenke syndrome29.8FGFR1, FGFR2, TWIST1, FGFR3
6lambdoid synostosis10.4
7craniosynostosis 310.2
8x-linked intellectual disability - plagiocephaly10.2
9plagiocephaly and x-linked mental retardation10.2
10beare-stevenson cutis gyrata syndrome10.1FGFR2
11antley-bixler syndrome10.1FGFR2
12osteochondroma10.1FGFR3
13osteoglophonic dysplasia10.1FGFR1
14achondroplasia10.0FGFR3, FGFR2
15ladd syndrome10.0FGFR3, FGFR2
16thanatophoric dysplasia10.0FGFR2, FGFR3
17acanthosis nigricans10.0FGFR3, FGFR2
18syndactyly10.0FGFR2, FGFR3
19giant cell tumor10.0BGLAP, FGFR3
20osteogenesis imperfecta10.0BGLAP, FGFR3
21transitional cell carcinoma10.0FGFR3, FGFR2
22short stature10.0BGLAP, FGFR3
23infectious mononucleosis10.0FGFR2, FGFR1
24bladder carcinoma10.0FGFR2, FGFR3
25thyroid cancer10.0FGFR2, BGLAP
26nasopharynx carcinoma10.0FGFR1, TWIST1
27skin disease10.0FGFR3, FGFR2
28hypogonadism10.0FGFR1, BGLAP
29stomach cancer10.0FGFR3, FGFR2, TWIST1
30tongue squamous cell carcinoma10.0FGFR3, TWIST1, FGFR2
31embryonal cancer10.0FGFR1, FGFR2
32hematologic cancer10.0BGLAP, FGFR1
33cleft palate10.0FGFR1, FGFR2, TWIST1
34fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3, FGFR1
35jackson-weiss syndrome10.0FGFR2, FGFR3, FGFR1
36acrocephalosyndactylia10.0FGFR3, FGFR2, FGFR1
37hypochondroplasia10.0FGFR1, FGFR2, FGFR3
38skeletal dysplasias10.0FGFR2, FGFR1, FGFR3
39dwarfism10.0FGFR2, FGFR1, FGFR3
40developmental disabilities10.0FGFR1, FGFR2, FGFR3
41chondrosarcoma10.0FGFR2, FGFR3, FGFR1
42pancreatic cancer10.0FGFR2, FGFR1, TWIST1
43breast cancer10.0FGFR1, FGFR2, TWIST1
44hepatocellular carcinoma9.9FGFR2, FGFR1, TWIST1
45prostate cancer9.9FGFR2, FGFR1, BGLAP
46myeloma9.9BGLAP, FGFR1, FGFR3
47colorectal cancer9.9FGFR2, FGFR3, FGFR1
48aicardi syndrome9.9
49cutis laxa9.9
50craniofrontonasal syndrome9.9

Graphical network of the top 20 diseases related to Plagiocephaly:



Diseases related to plagiocephaly

Symptoms for Plagiocephaly

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Drugs & Therapeutics for Plagiocephaly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Plagiocephaly

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Anatomical Context for Plagiocephaly

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34MalaCards
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MalaCards organs/tissues related to Plagiocephaly:

34
Bone, Brain, Eye, Heart, Testes

Animal Models for Plagiocephaly or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Plagiocephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4FGFR3, FGFR2
2MP:00053778.7FGFR2, FGFR1, FGFR3
3MP:00053718.4FGFR3, FGFR1, FGFR2, TWIST1
4MP:00053828.4TWIST1, FGFR2, FGFR1, FGFR3
5MP:00053818.3TWIST1, FGFR2, FGFR1, FGFR3
6MP:00053908.3FGFR3, FGFR1, FGFR2, TWIST1
7MP:00053868.2FGFR3, FGFR1, FGFR2, TWIST1
8MP:00053848.2TWIST1, FGFR2, FGFR1, FGFR3
9MP:00036318.1TWIST1, FGFR2, FGFR1, FGFR3
10MP:00053787.9FGFR3, FGFR1, FGFR2, TWIST1

Publications for Plagiocephaly

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53PubMed
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Articles related to Plagiocephaly:

(show top 50)    (show all 286)
idTitleAuthorsYear
1
A complicated case of plagiocephaly followed by delayed craniosynostosis. (23595804)
2013
2
Orthotic (helmet) therapy in the treatment of plagiocephaly. (24079781)
2013
3
A modified approach to surgical correction of anterior plagiocephaly. (23997494)
2012
4
Prevalence of positional plagiocephaly in teens born after the "Back to Sleep" campaign. (22241785)
2012
5
Craniosynostosis and deformational plagiocephaly: when and how to intervene. (22866500)
2012
6
Head orthesis therapy in infants with unilateral positional plagiocephaly: an interdisciplinary approach to broadening the range of orthodontic treatment. (22388713)
2012
7
Increased incidence of metopic suture abnormalities in children with positional plagiocephaly. (21187772)
2011
8
Investigation into an increase in plagiocephaly in Texas from 1999 to 2007. (21464373)
2011
9
Exploring the impact of osteopathic treatment on cranial asymmetries associated with nonsynostotic plagiocephaly in infants. (21982132)
2011
10
Severe deformational plagiocephaly: long-term results of surgical treatment. (21187754)
2011
11
Development in toddlers with and without deformational plagiocephaly. (21727278)
2011
12
Prevalence, risk factors, and natural history of positional plagiocephaly: a systematic review. (18754894)
2008
13
Plagiocephaly, brachycephaly and cranial orthotic devices: misshapen heads and helmets. (18719162)
2008
14
Plagiocephaly and awareness, prevention and treatment. (18497228)
2008
15
Comparison of a modifiable cranial cup versus repositioning and cervical stretching for the early correction of deformational posterior plagiocephaly. (18317143)
2008
16
The misdiagnosis of craniosynostosis as deformational plagiocephaly. (18216678)
2008
17
Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly. (17891404)
2007
18
Diagnostic value of skull x rays in infants with plagiocephaly. (17119094)
2006
19
Variable co-diagnosis of plagiocephaly and torticollis in Texas health care facilities. (16633168)
2006
20
Comparison of infant head shape changes in deformational plagiocephaly following treatment with a cranial remolding orthosis using a noninvasive laser shape digitizer. (17119410)
2006
21
Cranial distraction for plagiocephaly: quantitative morphologic analyses of cranium using three-dimensional computed tomography and a life-size model. (16077318)
2005
22
Conservative interventions for positional plagiocephaly: a systematic review. (16108460)
2005
23
Neurodevelopmental implications of "deformational" plagiocephaly. (16222180)
2005
24
Molding helmet therapy in the treatment of brachycephaly and plagiocephaly. (14704577)
2004
25
Plagiocephaly and brachycephaly in the first two years of life: a prospective cohort study. (15466093)
2004
26
Objective outcome analysis of soft shell helmet therapy in the treatment of deformational plagiocephaly. (15213546)
2004
27
Bipartite parietal bone: a rare cause of plagiocephaly. (15230767)
2004
28
Plagiocephaly: morphometry of skull base asymmetry. (14504821)
2003
29
Plagiocephaly--more questions than answers. (14581963)
2003
30
Determinants of nonsynostotic plagiocephaly: a case-control study. (14523218)
2003
31
Deformational posterior plagiocephaly: diagnosis and treatment. (12401104)
2002
32
Study of asymmetries of the cranial vault in plagiocephaly. (12218795)
2002
33
Ocular plagiocephaly: Author's reply (11097572)
2000
34
Update on craniofacial surgery: the differential diagnosis of lambdoid synostosis/posterior plagiocephaly. (11197708)
2000
35
Sternocleidomastoid imbalance versus congenital muscular torticollis: their relationship to positional plagiocephaly. (10342615)
1999
36
Positional plagiocephaly: a community approach to prevention and treatment. (10602685)
1999
37
Pediatric management problems. Plagiocephaly. (9555451)
1998
38
Etiology of positional plagiocephaly in triplets and treatment using a dynamic orthotic cranioplasty device. Report of three cases. (15096018)
1997
39
Occipital plagiocephaly: an epidemic of craniosynostosis? (9314744)
1997
40
Diagnosis and management of posterior plagiocephaly. (9024443)
1997
41
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. (9152842)
1997
42
Synostotic frontal plagiocephaly: anthropometric comparison of three techniques for surgical correction. (9385949)
1997
43
A prospective study of the relationship between strabismus and head posture in patients with frontal plagiocephaly. (8618990)
1996
44
Clinical presentation and management of 100 infants with occipital plagiocephaly. (9055327)
1996
45
Occipital plagiocephaly: deformation or lambdoid synostosis? II. A unifying theory regarding pathogenesis. (8841076)
1996
46
Surgery for unilateral coronal synostosis (plagiocephaly): unilateral or bilateral correction? (9133833)
1996
47
Refractive error and ocular motility in plagiocephaly. (7923229)
1994
48
Ocular manifestations of deformational frontal plagiocephaly. (8501624)
1993
49
Orbital expansion in plagiocephaly. (3345403)
1988
50
Helmet treatment for plagiocephaly and congenital muscular torticollis. (758420)
1979

Variations for Plagiocephaly

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Expression for genes affiliated with Plagiocephaly

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Plagiocephaly

Search GEO for disease gene expression data for Plagiocephaly.

Pathways for genes affiliated with Plagiocephaly

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 55R&D Systems, 5Cell Signaling Technology, 52PharmGKB, 58SinoBiological, 62Tocris Bioscience, 61Thomson Reuters
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Pathways related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TWIST1, BGLAP
29.1FGFR3, FGFR1
3
Show member pathways
9.1FGFR3, FGFR1
4
Show member pathways
8.6FGFR2, FGFR1, FGFR3
5
Show member pathways
8.6FGFR2, FGFR1, FGFR3
6
Show member pathways
8.6FGFR2, FGFR1, FGFR3
7
Show member pathways
8.6FGFR3, FGFR1, FGFR2
88.6FGFR2, FGFR1, FGFR3
9
Show member pathways
8.6FGFR3, FGFR1, FGFR2
108.6FGFR2, FGFR1, FGFR3
11
Show member pathways
8.6FGFR3, FGFR1, FGFR2
12
Show member pathways
8.6FGFR3, FGFR1, FGFR2
13
Show member pathways
8.6FGFR3, FGFR1, FGFR2
14
Show member pathways
8.6FGFR2, FGFR1, FGFR3
15
Show member pathways
8.6FGFR3, FGFR1, FGFR2
168.6FGFR3, FGFR1, FGFR2
17
Show member pathways
8.6FGFR3, FGFR1, FGFR2
18
Show member pathways
8.6FGFR2, FGFR1, FGFR3
19
Show member pathways
8.6FGFR2, FGFR1, FGFR3
20
Show member pathways
8.6FGFR3, FGFR1, FGFR2
21
Show member pathways
8.6FGFR3, FGFR1, FGFR2
22
Show member pathways
8.6FGFR3, FGFR1, FGFR2
23
Show member pathways
8.6FGFR2, FGFR1, FGFR3
248.6FGFR3, FGFR1, FGFR2
258.6FGFR2, FGFR1, FGFR3
268.6FGFR3, FGFR1, FGFR2
27
Show member pathways
8.6FGFR2, FGFR1, FGFR3
28
Show member pathways
8.6FGFR3, FGFR1, FGFR2
29
Show member pathways
8.6FGFR2, FGFR1, FGFR3
308.6FGFR3, FGFR1, FGFR2
31
Show member pathways
8.6FGFR2, FGFR1, FGFR3
32
Show member pathways
8.6FGFR3, FGFR1, FGFR2
33
Show member pathways
8.6FGFR3, FGFR1, FGFR2
34
Show member pathways
8.6FGFR3, FGFR1, FGFR2
35
Show member pathways
8.6FGFR3, FGFR1, FGFR2
36
Show member pathways
8.6FGFR2, FGFR1, FGFR3
37
Show member pathways
MAPK signaling pathway39
8.6FGFR3, FGFR1, FGFR2
38
Show member pathways
8.6FGFR3, FGFR1, FGFR2
39
Show member pathways
8.6FGFR3, FGFR1, FGFR2
40
Show member pathways
8.6FGFR2, FGFR1, FGFR3
41
Show member pathways
8.6FGFR3, FGFR1, FGFR2
42
Show member pathways
Signaling Pathways in Glioblastoma39
8.6FGFR2, FGFR1, FGFR3
438.5FGFR1, FGFR2, BGLAP
448.2FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Plagiocephaly

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Sources:
46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 3BitterDB, 25HMDB, 30IUPHAR
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Compounds related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide46 52 62 1212.7FGFR2, FGFR3
2azathioprine46 3 52 1212.5BGLAP, FGFR2
3sulfate46 2510.5FGFR3, FGFR2
4pazopanib52 1210.5FGFR1, FGFR3
5regorafenib52 1210.5FGFR1, FGFR2
6chondroitin sulfate46 2510.4FGFR2, FGFR1
7suramin46 30 1211.3FGFR2, FGFR1
8paraffin469.2BGLAP, FGFR2, FGFR3
9bromodeoxyuridine469.1FGFR1, FGFR2
10heparan sulfate46 2510.1FGFR1, FGFR2
11arginine469.0FGFR3, FGFR2, BGLAP
12paclitaxel46 52 1211.0FGFR1, FGFR2, TWIST1
13su 5402629.0FGFR3, FGFR2, FGFR1
14pd 161570629.0FGFR2, FGFR1, FGFR3
15fiin 1 hydrochloride629.0FGFR2, FGFR1, FGFR3
16su5402469.0FGFR3, FGFR1, FGFR2
17pd 17307446 6210.0FGFR2, FGFR1, FGFR3
18palifermin46 1210.0FGFR3, FGFR1, FGFR2
19ponatinib52 1210.0FGFR2, FGFR1, FGFR3
20phenylalanine469.0FGFR3, FGFR1, FGFR2
21phosphotyrosine469.0FGFR3, FGFR1, FGFR2
22lysine468.9FGFR3, FGFR1, FGFR2
23oligonucleotide468.9FGFR3, FGFR1, FGFR2
24imatinib46 52 1210.8FGFR3, FGFR1
25heparin46 30 25 1211.8BGLAP, FGFR2, FGFR1
26h2o2468.8FGFR1, FGFR2, BGLAP
27testosterone46 62 25 1211.8BGLAP, FGFR2, FGFR1
28threonine468.8FGFR3, FGFR1, FGFR2
29glutamate468.7FGFR2, FGFR1, FGFR3
30tyrosine468.5FGFR3, FGFR1, FGFR2, TWIST1
31estrogen468.4BGLAP, TWIST1, FGFR2, FGFR1
32retinoic acid46 259.4BGLAP, FGFR2, FGFR1
33vegf468.4FGFR3, FGFR1, FGFR2, BGLAP
34cysteine468.4BGLAP, FGFR2, FGFR1, FGFR3
35serine468.3BGLAP, FGFR2, FGFR1, FGFR3
36calcium46 52 25 1211.3BGLAP, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Plagiocephaly

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17Gene Ontology
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Cellular components related to Plagiocephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.6FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.5FGFR3, FGFR1, FGFR2
3extracellular regionGO:0055767.7BGLAP, FGFR2, FGFR1, FGFR3

Biological processes related to Plagiocephaly according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.8FGFR2, FGFR3
2negative regulation of mitosisGO:0458399.8FGFR3, FGFR2
3embryonic cranial skeleton morphogenesisGO:0487019.8TWIST1, FGFR2
4bone morphogenesisGO:0603499.8FGFR3, FGFR2
5regulation of bone mineralizationGO:0305009.8TWIST1, BGLAP
6bone mineralizationGO:0302829.6BGLAP, FGFR2
7negative regulation of epithelial cell proliferationGO:0506809.6FGFR3, FGFR2
8bone developmentGO:0603489.6FGFR2, BGLAP
9cellular response to growth factor stimulusGO:0713639.6BGLAP, TWIST1
10outer ear morphogenesisGO:0424739.6TWIST1, FGFR1
11positive regulation of canonical Wnt signaling pathwayGO:0902639.6FGFR2, FGFR3
12osteoblast differentiationGO:0016499.6TWIST1, BGLAP
13fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.6FGFR2, FGFR1
14ventricular zone neuroblast divisionGO:0218479.6FGFR1, FGFR2
15positive regulation of epithelial cell proliferationGO:0506799.6FGFR2, TWIST1
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGFR1, FGFR3
17mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
18lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
19branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
20positive regulation of cardiac muscle cell proliferationGO:0600459.5FGFR2, FGFR1
21skeletal system morphogenesisGO:0487059.5FGFR2, FGFR1
22positive regulation of cell cycleGO:0457879.5FGFR1, FGFR2
23midbrain developmentGO:0309019.4FGFR2, FGFR1
24positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
25chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
26ureteric bud developmentGO:0016579.4FGFR1, FGFR2
27odontogenesisGO:0424769.3FGFR2, TWIST1, BGLAP
28inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
29neuron migrationGO:0017649.2FGFR1, TWIST1
30MAPK cascadeGO:0001659.1FGFR3, FGFR1
31positive regulation of ERK1 and ERK2 cascadeGO:0703749.1FGFR3, FGFR2
32positive regulation of phospholipase activityGO:0105189.1FGFR3, FGFR1, FGFR2
33positive regulation of MAPK cascadeGO:0434109.0FGFR3, FGFR1, FGFR2
34in utero embryonic developmentGO:0017019.0FGFR1, FGFR2, TWIST1
35peptidyl-tyrosine phosphorylationGO:0181089.0FGFR2, FGFR1, FGFR3
36phosphatidylinositol-mediated signalingGO:0480159.0FGFR3, FGFR1, FGFR2
37insulin receptor signaling pathwayGO:0082869.0FGFR3, FGFR1, FGFR2
38protein autophosphorylationGO:0467779.0FGFR2, FGFR1, FGFR3
39fibroblast growth factor receptor signaling pathwayGO:0085439.0FGFR3, FGFR1, FGFR2
40Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGFR1, FGFR3
41epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR2, FGFR1, FGFR3
42neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR3, FGFR1, FGFR2
43skeletal system developmentGO:0015018.9FGFR3, FGFR1, BGLAP
44positive regulation of cell proliferationGO:0082848.8FGFR3, FGFR1, FGFR2
45negative regulation of transcription from RNA polymerase II promoterGO:0001228.6FGFR3, FGFR1, FGFR2, TWIST1
46innate immune responseGO:0450878.5FGFR2, FGFR1, FGFR3

Molecular functions related to Plagiocephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.6FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.5FGFR2, FGFR1, FGFR3
5protein homodimerization activityGO:0428038.4FGFR1, FGFR2, TWIST1

Products for genes affiliated with Plagiocephaly

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  • Antibodies
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Sources for Plagiocephaly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet