Source: INFERRED

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: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease 0.100 None 0 2
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0