Class information for:
Level 1: CHOROIDEREMIA//POU3F4//CHM GENE

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
25093 291 26.5 74%



Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes

The table includes all classes above and classes immediately below the current class.



Cluster id Level Cluster label #P
11 4 NEUROSCIENCES//CLINICAL NEUROLOGY//NEUROL 1112395
97 3       OTORHINOLARYNGOLOGY//AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY//HEARING RESEARCH 75796
2453 2             GJB2//USHER SYNDROME//CONNEXIN 26 4040
25093 1                   CHOROIDEREMIA//POU3F4//CHM GENE 291

Terms with highest relevance score



rank Term termType Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 CHOROIDEREMIA authKW 3219343 16% 65% 47
2 POU3F4 authKW 1803829 7% 90% 19
3 CHM GENE authKW 629593 2% 100% 6
4 DFNX2 authKW 629593 2% 100% 6
5 DFN3 authKW 539649 2% 86% 6
6 RAB ESCORT PROTEIN 1 authKW 539649 2% 86% 6
7 CHOROIDEREMIA GENE authKW 419728 1% 100% 4
8 INCOMPLETE PARTITION TYPE III authKW 419728 1% 100% 4
9 X LINKED DEAFNESS authKW 374755 2% 71% 5
10 CHM authKW 268615 3% 32% 8

Web of Science journal categories



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 Ophthalmology 4915 35% 0% 102
2 Genetics & Heredity 2855 41% 0% 120
3 Otorhinolaryngology 1248 14% 0% 41
4 Medicine, Research & Experimental 46 6% 0% 17
5 Biochemistry & Molecular Biology 45 15% 0% 43
6 Audiology & Speech-Language Pathology 42 2% 0% 5
7 Medical Ethics 33 1% 0% 2
8 Biotechnology & Applied Microbiology 21 5% 0% 15
9 Pediatrics 18 4% 0% 11
10 Developmental Biology 13 2% 0% 5

Address terms



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 NIHR OPHTHALMOL BIOMED 236096 1% 75% 3
2 SERV EXPLORAT VIS 209864 1% 100% 2
3 OCULAR GENET 125909 2% 20% 6
4 ABT PHONIATRIE PADUAUDIOL 104932 0% 100% 1
5 AUDIOL NEUROOTOLOTY 104932 0% 100% 1
6 BIOIRIFORMAT 104932 0% 100% 1
7 BIOMED SCI MOL GENOM MED 104932 0% 100% 1
8 CHINESE PEOPLE LIBERAT ARMY OTOLARYNGOL 104932 0% 100% 1
9 DIPARTIMENTO OFTALMOL PEDIAT 104932 0% 100% 1
10 FM KIRBY MOL OPHTHALMOL EIE EYE 104932 0% 100% 1

Journals



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 OPHTHALMIC GENETICS 17557 3% 2% 10
2 OPHTHALMIC PAEDIATRICS AND GENETICS 6894 2% 1% 5
3 HUMAN GENETICS 5799 7% 0% 21
4 HUMAN MUTATION 2632 3% 0% 10
5 HUMAN MOLECULAR GENETICS 1804 4% 0% 13
6 AMERICAN JOURNAL OF HUMAN GENETICS 1567 4% 0% 11
7 OPHTHALMOLOGY 1378 4% 0% 12
8 AMERICAN JOURNAL OF AUDIOLOGY 1354 1% 1% 2
9 CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE 1147 2% 0% 5
10 MOLECULAR VISION 1140 2% 0% 6

Author Key Words



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
LCSH search Wikipedia search
1 CHOROIDEREMIA 3219343 16% 65% 47 Search CHOROIDEREMIA Search CHOROIDEREMIA
2 POU3F4 1803829 7% 90% 19 Search POU3F4 Search POU3F4
3 CHM GENE 629593 2% 100% 6 Search CHM+GENE Search CHM+GENE
4 DFNX2 629593 2% 100% 6 Search DFNX2 Search DFNX2
5 DFN3 539649 2% 86% 6 Search DFN3 Search DFN3
6 RAB ESCORT PROTEIN 1 539649 2% 86% 6 Search RAB+ESCORT+PROTEIN+1 Search RAB+ESCORT+PROTEIN+1
7 CHOROIDEREMIA GENE 419728 1% 100% 4 Search CHOROIDEREMIA+GENE Search CHOROIDEREMIA+GENE
8 INCOMPLETE PARTITION TYPE III 419728 1% 100% 4 Search INCOMPLETE+PARTITION+TYPE+III Search INCOMPLETE+PARTITION+TYPE+III
9 X LINKED DEAFNESS 374755 2% 71% 5 Search X+LINKED+DEAFNESS Search X+LINKED+DEAFNESS
10 CHM 268615 3% 32% 8 Search CHM Search CHM

Core articles

The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.



Rank Reference # ref.
in cl.
Shr. of ref. in
cl.
Citations
1 COUSSA, RG , TRABOULSI, EI , (2012) CHORIODEREMIA: A REVIEW OF GENERAL FINDINGS AND PATHOGENESIS.OPHTHALMIC GENETICS. VOL. 33. ISSUE 2. P. 57 -65 38 72% 20
2 DIMOPOULOS, IS , CHAN, S , MACLAREN, RE , MACDONALD, IM , (2015) PATHOGENIC MECHANISMS AND THE PROSPECT OF GENE THERAPY FOR CHOROIDEREMIA.EXPERT OPINION ON ORPHAN DRUGS. VOL. 3. ISSUE 7. P. 787 -798 46 55% 2
3 WESTER, JL , MERNA, C , PENG, KA , LEWIS, R , SEPANDARI, AR , ISHIYAMA, G , HOSOKAWA, K , KUMAKAWA, K , ISHIYAMA, A , (2016) FACIAL NERVE STIMULATION FOLLOWING COCHLEAR IMPLANTATION FOR X-LINKED STAPES GUSHER SYNDROME LEADING TO IDENTIFICATION OF A NOVEL POU3F4 MUTATION.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. VOL. 91. ISSUE . P. 121 -123 21 95% 0
4 DU, W , HAN, MK , WANG, DY , HAN, B , ZONG, L , LAN, L , YANG, J , SHEN, Q , XIE, LY , YU, L , ET AL (2017) A POU3F4 MUTATION CAUSES NONSYNDROMIC HEARING LOSS IN A CHINESE X-LINKED RECESSIVE FAMILY.CHINESE MEDICAL JOURNAL. VOL. 130. ISSUE 1. P. 88 -92 21 91% 0
5 IINO, Y , FUJIMAKI, T , FUJIKI, K , MURAKAMI, A , (2008) A NOVEL MUTATION (967-970+2)DELAAAGGT IN THE CHOROIDEREMIA GENE FOUND IN A JAPANESE FAMILY AND RELATED CLINICAL FINDINGS.JAPANESE JOURNAL OF OPHTHALMOLOGY. VOL. 52. ISSUE 4. P. 289-297 27 84% 6
6 MOTEKI, H , SHEARER, AE , IZUMI, S , KUBOTA, Y , AZAIEZ, H , BOOTH, KT , SLOAN, CM , KOLBE, DL , SMITH, RJH , USAMI, S , (2015) DE NOVO MUTATION IN X-LINKED HEARING LOSS-ASSOCIATED POU3F4 IN A SPORADIC CASE OF CONGENITAL HEARING LOSS.ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY. VOL. 124. ISSUE . P. 169S -176S 23 79% 2
7 POLOSCHEK, CM , KLOECKENER-GRUISSEM, B , HANSEN, LL , BACH, M , BERGER, W , (2008) SYNDROMIC CHOROIDEREMIA: SUBLOCALIZATION OF PHENOTYPES ASSOCIATED WITH MARTIN-PROBST DEAFNESS MENTAL RETARDATION SYNDROME.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. VOL. 49. ISSUE 9. P. 4096-4104 32 63% 10
8 KEISER, NW , TANG, WX , WEI, ZY , BENNETT, J , (2005) SPATIAL AND TEMPORAL EXPRESSION PATTERNS OF THE CHOROIDEREMIA GENE IN THE MOUSE RETINA.MOLECULAR VISION. VOL. 11. ISSUE 123-24. P. 1052 -1060 29 71% 4
9 COUSSA, RG , KIM, J , TRABOULSI, EI , (2012) CHOROIDEREMIA: EFFECT OF AGE VISUAL ACUITY IN PATIENTS AND FEMALE CARRIERS.OPHTHALMIC GENETICS. VOL. 33. ISSUE 2. P. 66-73 20 80% 8
10 LI, SQ , GUAN, LP , FANG, SH , JIANG, H , XIAO, XS , YANG, JH , WANG, PF , YIN, Y , GUO, XM , WANG, J , ET AL (2014) EXOME SEQUENCING REVEALS CHM MUTATIONS IN SIX FAMILIES WITH ATYPICAL CHOROIDEREMIA INITIALLY DIAGNOSED AS RETINITIS PIGMENTOSA.INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. VOL. 34. ISSUE 2. P. 573 -577 25 60% 5

Classes with closest relation at Level 1



Rank Class id link
1 2508 GJB2//CONNEXIN 26//SLC26A4
2 7466 AUDITORY BRAINSTEM IMPLANT//INNER EAR MALFORMATION//LARGE VESTIBULAR AQUEDUCT SYNDROME
3 8667 X LINKED MENTAL RETARDATION//XLMR//PQBP1
4 2031 RAB//RAB PROTEINS//RAB27A
5 4434 RETINITIS PIGMENTOSA//RPGR//AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA
6 23460 NORRIE DISEASE//FAMILIAL EXUDATIVE VITREORETINOPATHY//NORRIN
7 9747 LEBER CONGENITAL AMAUROSIS//RPE65//LEBERS CONGENITAL AMAUROSIS
8 24376 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE//NUCLEOTIDE SYNTHESIS//PRPP SYNTHETASE
9 23938 GYRATE ATROPHY//ORNITHINE AMINOTRANSFERASE//GYRATE ATROPHY OF THE CHOROID AND RETINA
10 16740 CONGENITAL STAPES FIXATION//FALLOPIAN CANAL//JUVENILE OTOSCLEROSIS

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