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: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		9 25 9 1.00 5 0.16
CUI: C1096250
Disease: Gastrointestinal discomfort
Gastrointestinal discomfort 		4 0 3 0.30 0 0
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		9 0 3 0.20 0 0
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects 		17 0 3 0.13 0 0
CUI: C0455938
Disease: Large adenoids
Large adenoids 		1 0 1 0.11 0 0
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
Mildly elevated creatine phosphokinase 		1 0 1 0.11 0 0
CUI: C1867332
Disease: Reticular Dystrophy Of Retinal Pigment Epithelium
Reticular Dystrophy Of Retinal Pigment Epithelium 		1 0 1 0.11 0 0
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		1 0 1 0.11 0 0
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		1 0 1 0.11 0 0
CUI: C4280687
Disease: Upper limb muscle hypertrophy
Upper limb muscle hypertrophy 		1 0 1 0.11 0 0
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		1 0 1 0.11 0 0
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		1 0 1 0.11 0 0
CUI: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 		1 0 1 0.11 0 0
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		1 0 1 0.11 0 0
CUI: C1290587
Disease: Failure of tooth eruption
Failure of tooth eruption 		2 0 1 1.0E-01 0 0
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		2 0 1 1.0E-01 0 0
CUI: C1860216
Disease: Progressive choreoathetosis
Progressive choreoathetosis 		2 0 1 1.0E-01 0 0
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 0 1 1.0E-01 0 0
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		2 0 1 1.0E-01 0 0
CUI: C4023678
Disease: Monocular strabismus
Monocular strabismus 		2 0 1 1.0E-01 0 0
CUI: C4531037
Disease: Bronchial isomerism
Bronchial isomerism 		2 0 1 1.0E-01 0 0
CUI: C0035793
Disease: Rocky Mountain Spotted Fever
Rocky Mountain Spotted Fever 		3 0 1 9.1E-02 0 0
CUI: C0748473
Disease: Arthritis, Sacroiliac
Arthritis, Sacroiliac 		3 0 1 9.1E-02 0 0
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei 		3 0 1 9.1E-02 0 0
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		3 0 1 9.1E-02 0 0