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: C0334328
Disease: Microfollicular adenoma
Microfollicular adenoma 		0 1 0 0 1 4.0E-03
CUI: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant 		0 2 0 0 2 8.1E-03
CUI: C0432562
Disease: Malignant lymphoma of spleen
Malignant lymphoma of spleen 		0 2 0 0 2 8.1E-03
CUI: C1290073
Disease: Acute mucositis
Acute mucositis 		0 1 0 0 1 4.0E-03
CUI: C2930987
Disease: Paranasal sinus teratocarcinosarcoma (type)
Paranasal sinus teratocarcinosarcoma (type) 		0 1 0 0 1 4.0E-03
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0 5 0 0 1 4.0E-03
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 1.6E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.7E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.7E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 1.7E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.7E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.7E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 1 1.7E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 0 1 1.7E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.7E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.7E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.7E-03 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 1 1.7E-03 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 1 1.7E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.7E-03 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		66 0 1 1.7E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		65 0 1 1.8E-03 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 1 1.8E-03 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		64 0 1 1.8E-03 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 1 1.8E-03 0 0