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: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		2 0 1 0.20 0 0
CUI: C3809672
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 		2 0 1 0.20 0 0
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		2 0 1 0.20 0 0
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		2 0 1 0.20 0 0
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		2 0 1 0.20 0 0
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		2 0 1 0.20 0 0
CUI: C4014386
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 		2 0 1 0.20 0 0
CUI: C4014745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		2 0 1 0.20 0 0
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		2 0 1 0.20 0 0
CUI: C4021099
Disease: Orthostatic tachycardia
Orthostatic tachycardia 		2 0 1 0.20 0 0
CUI: C4025747
Disease: Bulbous tips of toes
Bulbous tips of toes 		2 0 1 0.20 0 0
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		2 0 1 0.20 0 0
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		3 0 1 0.17 0 0
CUI: C2930898
Disease: Benign essential blepharospasm
Benign essential blepharospasm 		3 0 1 0.17 0 0
CUI: C3809853
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		3 0 1 0.17 0 0
CUI: C0259813
Disease: Drop Attack
Drop Attack 		4 0 1 0.14 0 0
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		5 0 1 0.12 0 0
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		6 0 1 0.11 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		7 0 1 1.0E-01 0 0
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		7 0 1 1.0E-01 0 0
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		8 0 1 9.1E-02 0 0
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		8 0 1 9.1E-02 0 0
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		10 0 1 7.7E-02 0 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 0 1 7.7E-02 0 0
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		11 0 1 7.1E-02 0 0