Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		0.100 Biomarker disease HPO
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		0.100 Biomarker disease HPO
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		0.100 Biomarker disease HPO
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		0.100 Biomarker disease HPO
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		0.100 Biomarker phenotype HPO
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		0.100 Biomarker disease HPO
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		0.100 Biomarker phenotype HPO
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		0.100 Biomarker disease HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		0.100 Biomarker disease HPO
CUI: C0342526
Disease: Absent testes
Absent testes 		0.100 Biomarker phenotype HPO
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C2347751
Disease: Adult Grade I Meningioma
Adult Grade I Meningioma 		0.010 GeneticVariation disease BEFREE BRIP1 rs4968451T>G was associated with markedly grade I meningioma risk (TT+TG vs. GG dominant, P = 0.008; TT/GT+GG recessive, P = 0.020). 29581016 2018
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 GeneticVariation disease BEFREE The polymorphisms rs4968451T>G in BRIP1 were significantly associated with the risk of meningioma (TT vs. TG vs. GG additive, P = 0.005; TT+TG vs. GG dominant, P = 0.015; TT/GT+GG recessive, P = 0.034). 29581016 2018
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.010 Biomarker disease BEFREE FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability. 18426915 2008
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		0.100 Biomarker phenotype HPO
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		0.100 Biomarker disease HPO
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		0.100 Biomarker phenotype HPO
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		0.100 Biomarker phenotype HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO