Source: CLINVAR

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: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB 		Ral GTPase activating protein non-catalytic subunit beta 0.659 0.577 1.00
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease 0.100 None 0 1