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: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
BRF1 RNA polymerase III transcription initiation factor subunit 0.700 0.462 1.0E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 4
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 3
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.691 0.500 1.0E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
cytoplasmic linker associated protein 1 0.751 0.500 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 7407
Gene Symbol: VARS1
VARS1
valyl-tRNA synthetase 1 0.711 0.500 1.8E-08
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
RFT1 homolog 0.700 0.500 3.7E-13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 3
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
major facilitator superfamily domain containing 2A 0.626 0.538 1.1E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017