Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 1
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
lysine demethylase 1A 0.512 0.808 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 1889
Gene Symbol: ECE1
ECE1
endothelin converting enzyme 1 0.541 0.769 0.96
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0