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: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		1 0 1 1.00 0 0
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease 		2 1 1 0.50 1 1.00
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		2 0 1 0.50 0 0
CUI: C1832130
Disease: Pursed lips
Pursed lips 		3 0 1 0.33 0 0
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		3 21 1 0.33 1 4.8E-02
CUI: C0426440
Disease: Large nostrils
Large nostrils 		4 0 1 0.25 0 0
CUI: C1857645
Disease: Slender nose
Slender nose 		4 0 1 0.25 0 0
CUI: C1313952
Disease: Respiration intermittent
Respiration intermittent 		6 0 1 0.17 0 0
CUI: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism 		6 0 1 0.17 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 0 1 0.11 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 1 0.11 0 0
CUI: C4021959
Disease: Round ear
Round ear 		10 0 1 1.0E-01 0 0
CUI: C0262385
Disease: Autonomic nervous system imbalance
Autonomic nervous system imbalance 		11 0 1 9.1E-02 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 1 9.1E-02 0 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 0 1 7.1E-02 0 0
CUI: C4317152
Disease: Dimple chin
Dimple chin 		16 0 1 6.2E-02 0 0
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		17 0 1 5.9E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 5.0E-02 0 0
CUI: C1857479
Disease: Short columella
Short columella 		20 0 1 5.0E-02 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 1 4.5E-02 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 1 4.5E-02 0 0
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		23 0 1 4.3E-02 0 0
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		25 0 1 4.0E-02 0 0
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		26 0 1 3.8E-02 0 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 1 3.7E-02 0 0