Source: CLINVAR

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: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 2
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 0 1