Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 4.3E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 8.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.1E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 7 7.6E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 1.3E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 1.1E-02 0 0
CUI: C4022657
Disease: Abnormal drinking behavior
Abnormal drinking behavior
1 0 1 5.3E-02 0 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
8 0 1 3.8E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement
22 0 1 2.5E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 1.5E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 3.2E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
13 0 2 6.7E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
22 0 1 2.5E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 8.8E-03 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe
9 0 1 3.7E-02 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands
10 0 1 3.6E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
140 0 1 6.3E-03 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
31 0 1 2.0E-02 0 0
CUI: C4021754
Disease: Abnormality of the sella turcica
Abnormality of the sella turcica
3 0 1 4.8E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
148 0 1 6.0E-03 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra
3 0 1 4.8E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column
24 0 1 2.4E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
64 0 1 1.2E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 2 1.4E-02 0 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
111 0 2 1.6E-02 0 0