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: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 2
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 2
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 1