Class information for:
Level 1: NOONAN SYNDROME//COSTELLO SYNDROME//LEOPARD SYNDROME

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
9898 1046 27.6 75%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
2325 4032 NOONAN SYNDROME//COSTELLO SYNDROME//THROMBOSPONDIN 1

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 NOONAN SYNDROME Author keyword 445 76% 29% 308
2 COSTELLO SYNDROME Author keyword 271 88% 12% 127
3 LEOPARD SYNDROME Author keyword 103 78% 7% 68
4 CARDIO FACIO CUTANEOUS SYNDROME Author keyword 102 89% 4% 47
5 PTPN11 Author keyword 86 62% 8% 88
6 PTPN11 GENE Author keyword 53 89% 2% 24
7 RASOPATHY Author keyword 42 72% 3% 33
8 SHOC2 Author keyword 32 85% 2% 17
9 CARDIOFACIOCUTANEOUS SYNDROME Author keyword 32 80% 2% 20
10 CFC SYNDROME Author keyword 31 92% 1% 12

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 NOONAN SYNDROME 445 76% 29% 308 Search NOONAN+SYNDROME Search NOONAN+SYNDROME
2 COSTELLO SYNDROME 271 88% 12% 127 Search COSTELLO+SYNDROME Search COSTELLO+SYNDROME
3 LEOPARD SYNDROME 103 78% 7% 68 Search LEOPARD+SYNDROME Search LEOPARD+SYNDROME
4 CARDIO FACIO CUTANEOUS SYNDROME 102 89% 4% 47 Search CARDIO+FACIO+CUTANEOUS+SYNDROME Search CARDIO+FACIO+CUTANEOUS+SYNDROME
5 PTPN11 86 62% 8% 88 Search PTPN11 Search PTPN11
6 PTPN11 GENE 53 89% 2% 24 Search PTPN11+GENE Search PTPN11+GENE
7 RASOPATHY 42 72% 3% 33 Search RASOPATHY Search RASOPATHY
8 SHOC2 32 85% 2% 17 Search SHOC2 Search SHOC2
9 CARDIOFACIOCUTANEOUS SYNDROME 32 80% 2% 20 Search CARDIOFACIOCUTANEOUS+SYNDROME Search CARDIOFACIOCUTANEOUS+SYNDROME
10 CFC SYNDROME 31 92% 1% 12 Search CFC+SYNDROME Search CFC+SYNDROME

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 FACIO CUTANEOUS SYNDROME 119 59% 13% 132
2 CFC SYNDROME 111 83% 6% 63
3 COSTELLO SYNDROME 89 54% 11% 115
4 CARDIOFACIOCUTANEOUS SYNDROME 75 91% 3% 31
5 PTPN11 MUTATIONS 69 56% 8% 84
6 MUTATIONS CAUSE NOONAN 56 75% 4% 41
7 CUTANEOUS SKELETAL SYNDROME 49 94% 2% 17
8 NOONAN SYNDROME 47 27% 14% 148
9 LEOPARD SYNDROMES 45 94% 2% 16
10 LEOPARD SYNDROME 45 56% 5% 55

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines 2010 91 110 95%
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations 2012 27 39 97%
The RASopathies 2013 47 63 57%
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation 2009 206 49 45%
The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders 2008 131 117 50%
Noonan syndrome 2014 3 40 98%
Clinical manifestations of mutations in RAS and related intracellular signal transduction factors 2011 28 60 78%
Leopard syndrome 2008 49 32 78%
Noonan syndrome 2007 81 36 94%
Costello syndrome: An overview 2003 100 43 93%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 DIPARTIMENTO BIOL CELLULARE NEUROSCI 6 21% 2.4% 25
2 DIPARTIMENTO EMATOL ONCOL MED MOL 5 27% 1.6% 17
3 IST CLIN PEDIAT 4 18% 2.1% 22
4 UNIV HOSP PRAGUE 4 75% 0.3% 3
5 HORMONIOS GENET MOL LIM 42UNIDADE ENDOCRIN 2 67% 0.2% 2
6 MAXILLA IAL SURG 2 67% 0.2% 2
7 SERV EPIDEMIOL CLIN DIFETTI CONGENITI 2 43% 0.3% 3
8 METAB BIOCHIM PATOL 2 21% 0.7% 7
9 UNIV HOSP MAGDEBURG 2 20% 0.7% 7
10 ENDOCRINOL GENET UNIT LIM 25 1 100% 0.2% 2

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000179999 SHP 2//SHP 1//GAB1
2 0.0000127667 JUVENILE MYELOMONOCYTIC LEUKEMIA//JMML//JUVENILE MYELOMONOCYTIC LEUKAEMIA
3 0.0000071316 CUTIS VERTICIS GYRATA//CEREBRIFORM INTRADERMAL NEVUS//CEREBRIFORM INTRADERMAL NAEVUS
4 0.0000060150 NEUROFIBROMATOSIS TYPE 1//NF1//NEUROFIBROMATOSIS
5 0.0000058222 CHERUBISM//BROWN TUMOR//CENTRAL GIANT CELL GRANULOMA
6 0.0000053877 FARNESYLTHIOSALICYLIC ACID//SALIRASIB//ABT STRUKTURELLE BIOL
7 0.0000047593 KBG SYNDROME//AARSKOG SCOTT SYNDROME//FACIOGENITAL DYSPLASIA
8 0.0000047100 GAPO SYNDROME//IFAP SYNDROME//ICHTHYOSIS FOLLICULARIS
9 0.0000044458 MIRROR SYNDROME//PLEUROAMNIOTIC SHUNT//BALLANTYNE SYNDROME
10 0.0000031745 TURNER SYNDROME//TURNERS SYNDROME//ULLRICH TURNER SYNDROME