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: 1639
Gene Symbol: DCTN1
DCTN1 		dynactin subunit 1 0.597 0.500 8.4E-02
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		NADH:ubiquinone oxidoreductase complex assembly factor 2 0.641 0.577 2.1E-06
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B 		paired like homeobox 2B 0.565 0.731 0.94
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		myopalladin 0.612 0.615 2.6E-06
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		NADH:ubiquinone oxidoreductase subunit B8 0.638 0.654 7.5E-03
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 2668
Gene Symbol: GDNF
GDNF 		glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 1908
Gene Symbol: EDN3
EDN3 		endothelin 3 0.608 0.577 2.5E-02
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0