Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
POLYENDOCRINE-POLYNEUROPATHY SYNDROME
1 0 1 7.1E-02 0 0
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes
1 0 1 7.1E-02 0 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly
1 0 1 7.1E-02 0 0
Aplasia/Hypoplasia of the phalanges of the 2nd toe
1 0 1 7.1E-02 0 0
Prolonged somatosensory evoked potentials
1 0 1 7.1E-02 0 0
CUI: C4024940
Disease: Cranial nerve motor loss
Cranial nerve motor loss
1 0 1 7.1E-02 0 0
CUI: C4025096
Disease: Progressive inspiratory stridor
Progressive inspiratory stridor
1 0 1 7.1E-02 0 0
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
1 0 1 7.1E-02 0 0
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
1 0 1 7.1E-02 0 0
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
1 0 1 7.1E-02 0 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex
1 0 1 7.1E-02 0 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail
1 0 1 7.1E-02 0 0
CUI: C4539881
Disease: DEAFNESS, AUTOSOMAL DOMINANT 71
DEAFNESS, AUTOSOMAL DOMINANT 71
1 0 1 7.1E-02 0 0
Progressive myoclonic epilepsy with dystonia
1 0 1 7.1E-02 0 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR
2 0 1 6.7E-02 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome
2 0 1 6.7E-02 0 0
CUI: C1860121
Disease: Decreased testosterone in males
Decreased testosterone in males
2 0 1 6.7E-02 0 0
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2
2 0 1 6.7E-02 0 0
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
2 0 1 6.7E-02 0 0
CUI: C3554055
Disease: PEROXISOME BIOGENESIS DISORDER 14B
PEROXISOME BIOGENESIS DISORDER 14B
2 0 1 6.7E-02 0 0
CUI: C3809105
Disease: PERRAULT SYNDROME 4
PERRAULT SYNDROME 4
2 0 1 6.7E-02 0 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss
2 0 1 6.7E-02 0 0
CUI: C4319808
Disease: Trisomy 13 Syndrome
Trisomy 13 Syndrome
2 0 1 6.7E-02 0 0
CUI: C4476619
Disease: Poor visual behavior for age
Poor visual behavior for age
2 0 1 6.7E-02 0 0
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor
3 0 1 6.2E-02 0 0