Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Reduced intraabdominal adipose tissue
2 0 1 0.14 0 0
CUI: C0085070
Disease: Smear Layer
Smear Layer
3 0 1 0.12 0 0
CUI: C0155320
Disease: Blindness, Cortical
Blindness, Cortical
3 0 1 0.12 0 0
CUI: C0860016
Disease: Fulminant Wilson's disease
Fulminant Wilson's disease
3 0 1 0.12 0 0
CUI: C1832276
Disease: Thenar muscle weakness
Thenar muscle weakness
3 0 1 0.12 0 0
First dorsal interossei muscle weakness
3 0 1 0.12 0 0
First dorsal interossei muscle atrophy
3 0 1 0.12 0 0
CUI: C1832279
Disease: Cold-induced hand cramps
Cold-induced hand cramps
3 0 1 0.12 0 0
CUI: C1837795
Disease: Prominent umbilicus
Prominent umbilicus
3 0 1 0.12 0 0
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
3 0 1 0.12 0 0
Abnormal motor nerve conduction velocity
3 0 1 0.12 0 0
CUI: C0349391
Disease: Apraxia, Verbal
Apraxia, Verbal
4 0 1 0.11 0 0
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia
4 0 1 0.11 0 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex
14 0 2 0.11 0 0
Lipodystrophy, not elsewhere classified
4 0 1 0.11 0 0
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses
4 0 1 0.11 0 0
Primitive reflexes (palmomental, snout, glabellar)
14 0 2 0.11 0 0
Abnormality of somatosensory evoked potentials
4 0 1 0.11 0 0
Insulin-resistant diabetes mellitus at puberty
5 0 1 1.0E-01 0 0
CUI: C2004345
Disease: phonological developmental disorder
phonological developmental disorder
5 0 1 1.0E-01 0 0
CUI: C3875011
Disease: Familial hyperalphalipoproteinemia
Familial hyperalphalipoproteinemia
5 0 1 1.0E-01 0 0
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia
5 0 1 1.0E-01 0 0
CUI: C4022906
Disease: Delayed social development
Delayed social development
5 0 1 1.0E-01 0 0
CUI: C4024613
Disease: Progressive distal muscular atrophy
Progressive distal muscular atrophy
5 0 1 1.0E-01 0 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome
6 0 1 9.1E-02 0 0