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: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
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: 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: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
nuclear receptor subfamily 2 group F member 1 0.656 0.654 0.99
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 79753
Gene Symbol: SNIP1
SNIP1
Smad nuclear interacting protein 1 0.682 0.462 0.42
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: 6492
Gene Symbol: SIM1
SIM1
SIM bHLH transcription factor 1 0.626 0.654 1.00
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
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
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: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.656 0.423 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 6134
Gene Symbol: RPL10
RPL10
ribosomal protein L10 0.568 0.731 0.91
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 63035
Gene Symbol: BCORL1
BCORL1
BCL6 corepressor like 1 0.682 0.500 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
LAS1 like ribosome biogenesis factor 0.682 0.654 1.00
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
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: 9244
Gene Symbol: CRLF1
CRLF1
cytokine receptor like factor 1 0.597 0.654 4.0E-05
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1
ADAMTS like 1 0.682 0.654 3.1E-12
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype 0.100 None 0 0