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: 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: 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
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
calcium voltage-gated channel subunit alpha1 G 0.590 0.577 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
nucleoporin 214 0.638 0.385 5.5E-02
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: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 3
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: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
cadherin EGF LAG seven-pass G-type receptor 2 0.656 0.577 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 22983
Gene Symbol: MAST1
MAST1
microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1