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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.400 None 1.000 0 0 2017 2017
Entrez Id: 4094
Gene Symbol: MAF
MAF
MAF bZIP transcription factor 0.623 0.769 0.74
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.120 None 1.000 0 0 2002 2003
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.653 0.385 0.17
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.110 None 1.000 0 0 1998 1998
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
TGFB induced factor homeobox 1 0.588 0.769 1.0E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1
teratocarcinoma-derived growth factor 1 0.584 0.731 9.2E-11
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
dishevelled binding antagonist of beta catenin 1 0.547 0.692 0.40
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0