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: C0267048
Disease: Glossoptosis
Glossoptosis
25 1 10 3.3E-02 1 0.20
Abnormality of the tympanic membrane
1 1 1 3.4E-03 1 0.20
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology
2 1 1 3.4E-03 1 0.20
Abnormality of nasopharyngeal adenoids
1 1 1 3.4E-03 1 0.20
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary
31 2 11 3.5E-02 1 0.17
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
8 2 4 1.4E-02 1 0.17
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling
28 2 1 3.1E-03 1 0.17
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand
12 2 2 6.6E-03 1 0.17
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
32 2 6 1.9E-02 1 0.17
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia
13 2 2 6.6E-03 1 0.17
CUI: C4023801
Disease: Fibular bowing
Fibular bowing
9 2 2 6.7E-03 1 0.17
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella
2 2 1 3.4E-03 1 0.17
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies
3 2 2 6.8E-03 1 0.17
CUI: C1839816
Disease: Long neck
Long neck
7 3 3 1.0E-02 1 0.14
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad
4 3 2 6.8E-03 1 0.14
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
2 4 2 6.9E-03 1 0.12
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
17 5 2 6.5E-03 1 0.11
CUI: C1398312
Disease: Narrow palate
Narrow palate
40 5 10 3.1E-02 1 0.11
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis
28 5 6 1.9E-02 1 0.11
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality
27 6 10 3.2E-02 1 1.0E-01
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth
12 6 1 3.3E-03 1 1.0E-01
Flexion contracture of proximal interphalangeal joint
168 7 29 6.7E-02 1 9.1E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
45 7 9 2.8E-02 1 9.1E-02
Abnormal fear/anxiety-related behavior
5 7 1 3.4E-03 1 9.1E-02
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
69 8 9 2.6E-02 1 8.3E-02