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: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 10916
Gene Symbol: MAGED2
MAGED2 		MAGE family member D2 0.691 0.462 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.120 None 1.000 2 1 2016 2018
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		exosome component 9 0.705 0.423 1.8E-11
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.120 None 1.000 0 1 2018 2020
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 0.792 0.385
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 1.000 2 1 2016 2017
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 162461
Gene Symbol: TMEM92
TMEM92 		transmembrane protein 92 0.890 0.038 6.3E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1