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: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		0 3 0 0 1 9.1E-03
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		0 4 0 0 3 2.8E-02
CUI: C1835713
Disease: CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding) 		0 2 0 0 1 9.2E-03
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0 11 0 0 1 8.5E-03
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		0 7 0 0 1 8.8E-03
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		0 1 0 0 1 9.3E-03
CUI: C1861556
Disease: Cirrhosis, Familial
Cirrhosis, Familial 		0 6 0 0 1 8.8E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 1.8E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.1E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.6E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.6E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.6E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 2.7E-03 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 1 2.7E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 2.7E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 2.7E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 2.9E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 1 2.9E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 3.0E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 3.0E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.0E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 3.0E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.0E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 3.1E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 3.1E-03 0 0