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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.670 None 1.000 4 2 2015 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		disease 0.610 None 1.000 8 20 2015 2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		disease 0.400 None 1.000 7 12 2015 2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0