Source: HPO

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: 6524
Gene Symbol: SLC5A2
SLC5A2 		solute carrier family 5 member 2 0.499 0.769 4.9E-14
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 60468
Gene Symbol: BACH2
BACH2 		BTB domain and CNC homolog 2 0.539 0.731 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 5860
Gene Symbol: QDPR
QDPR 		quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 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: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 5800
Gene Symbol: PTPRO
PTPRO 		protein tyrosine phosphatase receptor type O 0.656 0.423 1.2E-05
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX 		periaxin 0.650 0.577 2.1E-14
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		nucleoporin 107 0.595 0.500 2.6E-09
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8 		PR/SET domain 8 0.678 0.462 0.78
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		ALX homeobox 4 0.560 0.692 0.36
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 65080
Gene Symbol: MRPL44
MRPL44 		mitochondrial ribosomal protein L44 0.805 0.308 2.1E-09
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		receptor accessory protein 1 0.653 0.423 0.99
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0