Source: HPO

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: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0023418
Disease: leukemia
leukemia 		disease 0.600 strong 1.000 0 0 2017 2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.420 strong 1.000 0 0 1996 2019
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.400 strong 1.000 0 0 2017 2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.400 strong 1.000 0 0 1996 2006
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		phenotype 0.100 None 0 0