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: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant 		0 2 0 0 2 0.22
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 1.7E-03 0 0
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		160 0 1 1.7E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 1.8E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.8E-03 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		129 0 1 1.8E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 1.9E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 1.9E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.9E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 1.9E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 1.9E-03 0 0
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		109 0 1 1.9E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 1.9E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.0E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 2.0E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 2.0E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 2.0E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 2.0E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 2.0E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 2.1E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 2.1E-03 0 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		72 0 1 2.1E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 2.1E-03 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 1 2.1E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 2.1E-03 0 0