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: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0021359
Disease: Infertility
Infertility 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C4022985
Disease: Abnormal central microtubular pair morphology of respiratory motile cilia
Abnormal central microtubular pair morphology of respiratory motile cilia 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		disease 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype 0.100 None 0 0
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis 		disease 0.100 None 0 0