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: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type
1 0 1 1.00 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 1.00 0 0
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus
1 0 1 1.00 0 0
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q
1 0 1 1.00 0 0
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
1 0 1 1.00 0 0
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
1 0 1 1.00 0 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR
2 0 1 0.50 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome
2 0 1 0.50 0 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss
2 0 1 0.50 0 0
CUI: C4319808
Disease: Trisomy 13 Syndrome
Trisomy 13 Syndrome
2 0 1 0.50 0 0
Hypoplasia of the semicircular canal
3 0 1 0.33 0 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology
3 0 1 0.33 0 0
CUI: C4025317
Disease: Bilateral choanal atresia
Bilateral choanal atresia
3 0 1 0.33 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia
4 0 1 0.25 0 0
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
4 0 1 0.25 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome
4 0 1 0.25 0 0
Morphological abnormality of the semicircular canal
4 0 1 0.25 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur
4 0 1 0.25 0 0
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch
5 0 1 0.20 0 0
CUI: C0266614
Disease: Bat ear
Bat ear
5 0 1 0.20 0 0
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry
5 0 1 0.20 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics
5 0 1 0.20 0 0
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus
6 0 1 0.17 0 0
Kallmann syndrome, type 3, recessive
6 0 1 0.17 0 0
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment
6 0 1 0.17 0 0