Property Summary

NCBI Gene PubMed Count 11
PubMed Score 13.51
PubTator Score 7.90

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Syndactyly 56 4.686 2.3

Gene RIF (1)

PMID Text
11778160 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

AA Sequence

MMERIRKEMILMERGLHSPTAGKRFSNLSNSAGNAVLEALENSQHPARLSPRLPSAPLHSALGELPAKGK      1 - 70
FEIDTLFNLQHTGSESTVSSEISSAAESRKKPGHYSEAAAEADMSSDVEVGCSALRSPGGLGAAQLKENN     71 - 140
GKGYAESGSAAGTTTSASGSGLGSLHGGSGGSGGSAALGGSGSGADQVRRYRTAFTREQIARLEKEFYRE    141 - 210
NYVSRPRRCELAAALNLPETTIKVWFQNRRMKDKRQRLAMSWPHPADPSFYTYMMTHAAATGSLPYPFHS    211 - 280
HVPLHYYPHVGVTAAAAAAAASGAAAAASSPFATSIRPLDTFRALSHPYSRPELLCSFRHPGLYQAPAAA    281 - 350
AGLNSAASAAAAAAAAAAAASSAAAAGAPPSGGSAPCSCLSCHSSQSAAAAAAAAAAALGSRGGGGGGGG    351 - 420
GGGGGGGGAGAGGGSDFGCSAAAPRSESGFLPYSAAVLSKTAVSPPDQRDEAPLTR                  421 - 476
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Text Mined References (11)

PMID Year Title
22699663 2012 Genome-wide association study of periodontal pathogen colonization.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
12136098 2002 NotI flanking sequences: a tool for gene discovery and verification of the human genome.
11778160 2002 A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
11181995 2001 The sequence of the human genome.
11060466 2000 Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1.
10440834 1999 Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
7896287 1994 Order of six loci at 2q24-q31 and orientation of the HOXD locus.
7581388 1995 Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.
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