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: C0080178
Disease: Spina Bifida
Spina Bifida 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		0.100 Biomarker disease HPO
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.100 Biomarker phenotype HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241391
Disease: Thumb absent
Thumb absent 		0.100 Biomarker phenotype HPO
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 Biomarker disease HPO
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		0.100 Biomarker disease HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		0.100 Biomarker disease HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.100 Biomarker group HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.100 Biomarker disease HPO
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		0.100 Biomarker disease HPO
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.100 Biomarker disease HPO
CUI: C0342526
Disease: Absent testes
Absent testes 		0.100 Biomarker phenotype HPO