Source: ALL

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: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C2673410
Disease: Small midface
Small midface
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: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 2
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 1
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C2673410
Disease: Small midface
Small midface
phenotype 0.100 None 0 2