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: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		disease 0.730 None 1.000 0 7 2008 2016
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1