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: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
disease 0.800 definitive 0.963 11 32 2005 2019
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 14 1 1988 2013
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 1 1988 2013
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 14 1 1988 2013