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: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
arachidonate lipoxygenase 3 0.644 0.538 5.1E-20
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 1954
Gene Symbol: MEGF8
MEGF8
multiple EGF like domains 8 0.584 0.538 1.9E-05
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.566 0.692 1.5E-07
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 1
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 1
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0