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: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		2 0 1 0.33 0 0
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		2 0 1 0.33 0 0
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		2 0 1 0.33 0 0
CUI: C4014386
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 		2 0 1 0.33 0 0
CUI: C4014745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		2 0 1 0.33 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 0.33 0 0
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		2 0 1 0.33 0 0
CUI: C3809853
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		3 0 1 0.25 0 0
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		4 0 1 0.20 0 0
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		5 0 1 0.17 0 0
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		6 0 1 0.14 0 0
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		8 0 1 0.11 0 0
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		8 0 1 0.11 0 0
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		12 0 1 7.7E-02 0 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		14 0 1 6.7E-02 0 0
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		14 0 1 6.7E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 5.9E-02 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 2 4.9E-02 0 0
CUI: C1955690
Disease: Extranodal marginal zone B-cell lymphoma
Extranodal marginal zone B-cell lymphoma 		23 0 1 4.2E-02 0 0
CUI: C0349532
Disease: Gastric lymphoma
Gastric lymphoma 		24 0 1 4.0E-02 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 2 3.8E-02 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 2 2.7E-02 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 2 2.6E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 2 2.4E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 1 2.0E-02 0 0