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: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		30 0 4 0.12 0 0
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		21 0 3 0.12 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		2 0 1 0.11 0 0
CUI: C0849888
Disease: psychological disturbance
psychological disturbance 		2 0 1 0.11 0 0
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		2 0 1 0.11 0 0
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 0 1 0.11 0 0
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma 		2 0 1 0.11 0 0
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		2 0 1 0.11 0 0
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		2 0 1 0.11 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 0 1 0.11 0 0
CUI: C0263888
Disease: Back disorder
Back disorder 		3 0 1 1.0E-01 0 0
CUI: C1112574
Disease: Granulomatous ileocolitis
Granulomatous ileocolitis 		3 0 1 1.0E-01 0 0
CUI: C1257843
Disease: pseudomembranous colitis
pseudomembranous colitis 		3 0 1 1.0E-01 0 0
CUI: C1846421
Disease: Lathosterolosis
Lathosterolosis 		3 0 1 1.0E-01 0 0
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 0 1 1.0E-01 0 0
CUI: C4266451
Disease: Fetal abnormality
Fetal abnormality 		3 0 1 1.0E-01 0 0
CUI: C0156173
Disease: Functional diarrhea
Functional diarrhea 		4 0 1 9.1E-02 0 0
CUI: C0238106
Disease: Clostridium difficile colitis
Clostridium difficile colitis 		4 0 1 9.1E-02 0 0
CUI: C1849186
Disease: Severe photosensitivity
Severe photosensitivity 		4 0 1 9.1E-02 0 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		4 0 1 9.1E-02 0 0
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 0 1 9.1E-02 0 0
CUI: C0031019
Disease: Perianal abscess
Perianal abscess 		5 0 1 8.3E-02 0 0
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		5 0 1 8.3E-02 0 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		5 0 1 8.3E-02 0 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 0 1 8.3E-02 0 0