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: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		3 1 1 9.1E-02 1 0.50
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		1 1 1 0.11 1 0.50
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 1 2 6.2E-02 1 0.50
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses 		4 1 1 8.3E-02 1 0.50
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture 		2 1 1 1.0E-01 1 0.50
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 1 1 4.2E-02 1 0.50
CUI: C4023692
Disease: Ridged cranial sutures
Ridged cranial sutures 		1 1 1 0.11 1 0.50
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 1 2 9.1E-02 1 0.50
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 1 1 7.1E-02 1 0.50
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 2 1 3.3E-02 1 0.33
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 2 1 7.1E-02 1 0.33
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		49 3 1 1.8E-02 1 0.25
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema 		36 3 1 2.3E-02 1 0.25
CUI: C1844592
Disease: Soft skin
Soft skin 		22 3 1 3.3E-02 1 0.25
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		23 3 1 3.2E-02 1 0.25
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 1 1.1E-02 1 0.25
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		5 5 1 7.7E-02 1 0.17
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		44 6 1 1.9E-02 1 0.14
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 6 2 5.0E-02 1 0.14
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 1 5.3E-02 1 0.12
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		1 8 1 0.11 1 0.11
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		11 8 1 5.3E-02 1 0.11
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 1 5.6E-02 1 9.1E-02
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		94 11 1 9.8E-03 1 8.3E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 1 1.3E-02 1 8.3E-02