Source: INFERRED

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: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 56 145 2004 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
Finding of Mean Corpuscular Hemoglobin
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
Pyridoxine-responsive sideroblastic anemia
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0342526
Disease: Absent testes
Absent testes
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0