KIAA0556, KIAA0556, 23247

N. diseases: 60; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26 		0.300 CausalMutation disease CLINVAR
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		0.100 Biomarker disease HPO
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO