Source: INFERRED

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: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 1.000 0 0 2003 2018
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.120 None 1.000 0 0 2013 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1
ADAMTS like 1 0.682 0.654 3.1E-12
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
adaptor related protein complex 3 subunit delta 1 0.678 0.385 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
adaptor related protein complex 4 subunit epsilon 1 0.656 0.385 2.8E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0