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: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2 		aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 288
Gene Symbol: ANK3
ANK3 		ankyrin 3 0.578 0.654 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 0.805 0.231
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 1.000 2 1 2014 2017
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 1615
Gene Symbol: DARS1
DARS1 		aspartyl-tRNA synthetase 1 0.711 0.500 8.5E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 460
Gene Symbol: ASTN1
ASTN1 		astrotactin 1 0.736 0.308 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 79841
Gene Symbol: AGBL2
AGBL2 		ATP/GTP binding protein like 2 0.644 0.654 4.0E-16
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 1002
Gene Symbol: CDH4
CDH4 		cadherin 4 0.695 0.462 0.74
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		calcium voltage-gated channel subunit alpha1 H 0.628 0.423 4.8E-10
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 50937
Gene Symbol: CDON
CDON 		cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		cell division cycle 42 0.458 0.846 0.79
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 1.000 1 2 2013 2013