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: C0340031
Disease: Mucociliary clearance defect
Mucociliary clearance defect
1 0 1 0.20 0 0
CUI: C0406707
Disease: Basan syndrome
Basan syndrome
1 0 1 0.20 0 0
Other congenital malformation syndromes with other skeletal changes
1 0 1 0.20 0 0
CUI: C0740850
Disease: airway disease restrictive
airway disease restrictive
1 0 1 0.20 0 0
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2
1 0 1 0.20 0 0
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
1 0 1 0.20 0 0
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
1 0 1 0.20 0 0
Congenital palmoplantar keratodermia
1 0 1 0.20 0 0
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80
1 0 1 0.20 0 0
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
1 0 1 0.20 0 0
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
1 0 1 0.20 0 0
Keratoderma with scleroatrophy of the extremities
2 0 1 0.17 0 0
CUI: C1855694
Disease: Hypoplasia of the primary teeth
Hypoplasia of the primary teeth
2 0 1 0.17 0 0
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2
2 0 1 0.17 0 0
CUI: C4021399
Disease: Finger symphalangism
Finger symphalangism
2 0 1 0.17 0 0
CUI: C0004044
Disease: Asphyxia
Asphyxia
3 0 1 0.14 0 0
CUI: C0438644
Disease: Dermatoglyphs - skin lines
Dermatoglyphs - skin lines
3 0 1 0.14 0 0
CUI: C1401781
Disease: Short uvula
Short uvula
3 0 1 0.14 0 0
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
3 0 1 0.14 0 0
CUI: C0016873
Disease: Fused Teeth
Fused Teeth
4 0 1 0.12 0 0
CUI: C0266647
Disease: Congenital anomalies of fetus
Congenital anomalies of fetus
4 0 1 0.12 0 0
CUI: C0796095
Disease: Opitz trigonocephaly syndrome
Opitz trigonocephaly syndrome
4 0 1 0.12 0 0
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs
4 0 1 0.12 0 0
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of
4 0 1 0.12 0 0
CUI: C0039978
Disease: Thoracic Diseases
Thoracic Diseases
5 0 1 0.11 0 0