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: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA 		retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		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: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		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: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 4869
Gene Symbol: NPM1
NPM1 		nucleophosmin 1 0.464 0.846 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 4926
Gene Symbol: NUMA1
NUMA1 		nuclear mitotic apparatus protein 1 0.644 0.577 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5073
Gene Symbol: PARN
PARN 		poly(A)-specific ribonuclease 0.575 0.769 3.7E-04
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 5371
Gene Symbol: PML
PML 		promyelocytic leukemia 0.477 0.846 0.21
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		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: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 64859
Gene Symbol: NABP1
NABP1 		nucleic acid binding protein 1 0.711 0.423 3.3E-05
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1 		surfactant protein A1 0.546 0.808 3.7E-04
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16 		zinc finger and BTB domain containing 16 0.545 0.808 1.00
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0