Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 GeneticVariation CLINVAR Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 26166481

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 GeneticVariation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 GeneticVariation CLINVAR Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 26166481

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 GeneticVariation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C1854912
Disease: Short long bone
Short long bone 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4697708
Disease: Dolichocephalic
Dolichocephalic 		0.100 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker HPO

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker HPO

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker HPO

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker HPO

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker HPO