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: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 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: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 2
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 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: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 4
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 2
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 2
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 3
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		tripartite motif containing 8 0.588 0.731 0.99
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1