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: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 65117
Gene Symbol: RSRC2
RSRC2
arginine and serine rich coiled-coil 2 0.769 0.308 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 58538
Gene Symbol: MPP4
MPP4
membrane palmitoylated protein 4 0.792 0.308 3.4E-18
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
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: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
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: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 3
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2