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: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.8E-02 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 5.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 2 2.2E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 1 1.8E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 3.6E-02 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology
9 0 1 4.8E-02 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology
4 0 1 6.2E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
13 0 1 4.0E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
28 0 1 2.5E-02 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure
2 0 1 7.1E-02 0 0
Abnormality of metabolism/homeostasis
171 0 1 5.5E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
140 0 1 6.6E-03 0 0
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head
9 0 1 4.8E-02 0 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone
4 0 1 6.2E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
148 0 1 6.3E-03 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra
3 0 1 6.7E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
64 0 1 1.3E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
205 0 1 4.6E-03 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification
5 0 1 5.9E-02 0 0
CUI: C0234238
Disease: Ache
Ache
50 0 1 1.6E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 0 1 4.5E-03 0 0
Acquired Metabolic Diseases, Nervous System
2 0 1 7.1E-02 0 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration
18 0 1 3.3E-02 0 0
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia
45 0 2 3.6E-02 0 0
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
1293 0 2 1.5E-03 0 0