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: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 2
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 2
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 2
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1