Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 3 9.5E-03 1 6.7E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 2 1.8E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 2 2.3E-03 0 0
CUI: C0018021
Disease: Goiter
Goiter 		142 0 2 1.4E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 2 2.6E-03 0 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		111 0 2 1.8E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 0 2 3.3E-03 0 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 0 2 1.7E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 2 2.1E-03 1 1.7E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 2 2.0E-04 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 2 7.0E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 2 9.3E-04 1 1.8E-03
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 2 1.1E-02 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		30 0 2 6.5E-02 0 0
CUI: C0042571
Disease: Vertigo
Vertigo 		173 0 2 1.1E-02 0 0
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		35 0 2 5.6E-02 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 0 2 5.7E-03 0 0
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism 		7 0 2 0.25 0 0
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		1175 0 2 1.7E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 2 1.1E-03 1 1.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 2 2.7E-03 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		16 0 2 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 2 2.1E-03 1 6.1E-03
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		5 0 2 0.33 0 0
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		4 0 2 0.40 0 0