Source: ALL

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: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.410 None 1.000 2 0 2002 2011
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.300 None 1.000 1 0 1998 1998
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.110 None 1.000 1 0 2011 2011
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 0.582 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
PMS1 homolog 1, mismatch repair system component 0.569 0.654 1.3E-17
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
ribosomal protein S20 0.610 0.692 2.1E-02
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0030554
Disease: Paresthesia
Paresthesia
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: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.451 0.885 1.3E-07
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
tRNA 0.597 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 0.590 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 0.579 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
tRNA 0.563 0.731
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype 0.100 None 0 0