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: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.200 None 1.000 0 1 1999 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.150 None 1.000 0 1 2010 2017
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.130 None 1.000 0 1 2004 2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.110 None 1.000 0 2 2010 2010
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
WD repeat domain 37 0.751 0.231 0.57
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.110 None 1.000 0 1 2020 2020
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.666 0.692 2.0E-05
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 2
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
potassium channel tetramerization domain containing 3 0.931 0.115 0.10
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
BRF1 RNA polymerase III transcription initiation factor subunit 0.700 0.462 1.0E-04
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 4
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 2