FANCF, FA complementation group F, 2188

N. diseases: 153; N. variants: 7
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 Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118 2000
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: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 AlteredExpression disease BEFREE One novel lncRNA FGF9-associated factor (termed FAF) and mRNAs in AMI rats were verified by bioinformatics, real-time polymerase chain reaction or western blot. 31093967 2019
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		0.100 Biomarker phenotype HPO
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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 Biomarker disease BEFREE In contrast, AF in FAF-4 was associated with a slow ventricular response and, with progression of the disease, junctional rhythm and cardiomyopathy. 12821245 2003
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		0.100 Biomarker disease HPO