Source: ALL
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: C1262477
Disease: Weight decreased
Weight decreased 		271 3 46 8.6E-02 1 4.0E-02
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		43 2 28 8.6E-02 1 4.2E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 45 8.5E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 70 8.5E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 59 8.4E-02 2 1.7E-02
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 33 8.3E-02 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 12 34 8.3E-02 3 9.4E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 41 8.3E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 163 8.3E-02 2 3.5E-03
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 42 8.3E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 48 8.2E-02 1 2.1E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 41 8.2E-02 2 3.1E-02
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 32 8.2E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 53 8.1E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 26 8.1E-02 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 46 8.1E-02 0 0
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 0 51 8.0E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 50 8.0E-02 2 7.5E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 60 8.0E-02 3 3.3E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 34 8.0E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 53 8.0E-02 1 1.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 106 8.0E-02 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 32 7.9E-02 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 34 7.9E-02 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 35 7.9E-02 0 0