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: 5859
Gene Symbol: QARS1
QARS1 		glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 56131
Gene Symbol: PCDHB4
PCDHB4 		protocadherin beta 4 0.931 0.077 7.0E-12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 84678
Gene Symbol: KDM2B
KDM2B 		lysine demethylase 2B 0.592 0.692 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: 84947
Gene Symbol: SERAC1
SERAC1 		serine active site containing 1 0.686 0.385 3.9E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1 		leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 8626
Gene Symbol: TP63
TP63 		tumor protein p63 0.362 0.769 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 8785
Gene Symbol: MATN4
MATN4 		matrilin 4 0.769 0.308 1.1E-08
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
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: 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: 9373
Gene Symbol: PLAA
PLAA 		phospholipase A2 activating protein 0.597 0.692 0.47
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 9493
Gene Symbol: KIF23
KIF23 		kinesin family member 23 0.682 0.385 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
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: 767
Gene Symbol: CA8
CA8 		carbonic anhydrase 8 0.595 0.654 8.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1