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: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome
2 3 2 1.00 1 0.25
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
3 0 1 0.25 0 0
CUI: C3898473
Disease: Malignant biliary obstruction
Malignant biliary obstruction
3 0 1 0.25 0 0
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology
3 0 1 0.25 0 0
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
3 0 1 0.25 0 0
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
6 0 1 0.14 0 0
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D
8 0 1 0.11 0 0
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
12 0 1 7.7E-02 0 0
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
13 0 1 7.1E-02 0 0
CUI: C1868950
Disease: Multiple myeloma progression
Multiple myeloma progression
17 0 1 5.6E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
21 0 1 4.5E-02 0 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome
28 0 1 3.4E-02 0 0
Mixed follicular and papillary thyroid carcinoma
31 0 1 3.1E-02 0 0
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
32 0 1 3.0E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 1 2.2E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 2.2E-02 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
61 0 1 1.6E-02 0 0
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
80 0 1 1.2E-02 0 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
84 0 1 1.2E-02 0 0
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections
88 0 1 1.1E-02 0 0
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin
103 0 1 9.6E-03 0 0
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone
113 0 1 8.8E-03 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
118 0 1 8.4E-03 0 0
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
124 0 1 8.0E-03 0 0
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
130 0 1 7.6E-03 0 0