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: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		1 0 1 0.50 0 0
CUI: C4310761
Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 		1 2 1 0.50 1 0.11
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2 		2 0 1 0.33 0 0
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		2 0 1 0.33 0 0
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome 		4 0 1 0.20 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		14 11 2 0.14 1 5.6E-02
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		9 0 1 1.0E-01 0 0
CUI: C0155826
Disease: Chronic nasopharyngitis
Chronic nasopharyngitis 		12 0 1 7.7E-02 0 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		14 0 1 6.7E-02 0 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		43 0 2 4.7E-02 0 0
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		22 0 1 4.3E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 1 4.2E-02 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 1 2.8E-02 0 0
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		35 0 1 2.8E-02 0 0
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		39 0 1 2.5E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 2 1.6E-02 0 0
CUI: C0376705
Disease: Viral Load result
Viral Load result 		65 0 1 1.5E-02 0 0
CUI: C1285498
Disease: Vegetation
Vegetation 		67 0 1 1.5E-02 0 0
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		68 0 1 1.4E-02 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 1 1.2E-02 0 0
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		117 0 1 8.5E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 1 7.7E-03 0 0
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		147 0 1 6.8E-03 0 0
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		147 0 1 6.8E-03 0 0