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: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 2
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
RNA polymerase III subunit H 0.769 0.346 6.0E-03
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 2
Entrez Id: 1896
Gene Symbol: EDA
EDA
ectodysplasin A 0.553 0.808 0.97
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1