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: C0152190
Disease: Refractive amblyopia
Refractive amblyopia
1 0 1 4.5E-02 0 0
Congenital stenosis of pulmonary valve
1 3 1 4.5E-02 1 0.33
CUI: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type
1 0 1 4.5E-02 0 0
CUI: C0239894
Disease: HEART DISPLACEMENT
HEART DISPLACEMENT
1 0 1 4.5E-02 0 0
CUI: C0264402
Disease: Gas bubble disease
Gas bubble disease
1 0 1 4.5E-02 0 0
CUI: C0265241
Disease: Franceschetti-Klein syndrome
Franceschetti-Klein syndrome
1 0 1 4.5E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 4.5E-02 0 0
Congenital insufficiency of pulmonary valve
1 1 1 4.5E-02 1 1.00
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus
1 0 1 4.5E-02 0 0
CUI: C0266692
Disease: Craniopagus
Craniopagus
1 0 1 4.5E-02 0 0
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q
1 0 1 4.5E-02 0 0
Multiple Lentigines/LEOPARD syndrome
1 0 1 4.5E-02 0 0
CUI: C1833999
Disease: Retinal pigmentary degeneration
Retinal pigmentary degeneration
1 0 1 4.5E-02 0 0
CUI: C1837464
Disease: Small eyes
Small eyes
1 0 1 4.5E-02 0 0
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4
1 0 1 4.5E-02 0 0
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5
1 0 1 4.5E-02 0 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
1 0 1 4.5E-02 0 0
CUI: C1865880
Disease: Hyperkalemic metabolic acidosis
Hyperkalemic metabolic acidosis
1 0 1 4.5E-02 0 0
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4
1 0 1 4.5E-02 0 0
CUI: C2959367
Disease: Nephronophthisis type 4
Nephronophthisis type 4
1 0 1 4.5E-02 0 0
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
1 0 1 4.5E-02 0 0
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
1 0 1 4.5E-02 0 0
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13
1 0 1 4.5E-02 0 0
CUI: C3541853
Disease: NEPHRONOPHTHISIS 15
NEPHRONOPHTHISIS 15
1 0 1 4.5E-02 0 0
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
1 0 1 4.5E-02 0 0