KIAA0586, KIAA0586, 9786

N. diseases: 157; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.320 Biomarker disease CTD_human
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 GeneticVariation disease CLINVAR
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker disease HPO
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: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 GeneticVariation disease CLINVAR
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 GeneticVariation disease CLINVAR
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype 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: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.100 CausalMutation disease CLINVAR
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.100 GeneticVariation group CLINVAR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO