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: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 55617
Gene Symbol: TASP1
TASP1
taspase 1 0.805 0.346 0.61
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 81857
Gene Symbol: MED25
MED25
mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 84265
Gene Symbol: POLR3GL
POLR3GL
RNA polymerase III subunit G like 0.839 0.231 2.3E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1