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: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
KIAA1549 0.615 0.346 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57599
Gene Symbol: WDR48
WDR48
WD repeat domain 48 0.628 0.615 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0