FANCI, FA complementation group I, 55215

N. diseases: 147; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.100 Biomarker phenotype HPO