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: C0576226
Disease: Short foot
Short foot
116 0 1 1.7E-03 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 1 1.7E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 0 1 1.7E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
113 0 1 1.7E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait
113 0 1 1.7E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
113 0 1 1.7E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
112 0 1 1.7E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys
111 0 1 1.8E-03 0 0
Congenital absence of kidneys syndrome
110 0 1 1.8E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
109 0 1 1.8E-03 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
109 0 1 1.8E-03 0 0
Aplasia/Hypoplasia of the corpus callosum
108 0 1 1.8E-03 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
106 0 1 1.8E-03 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
104 0 1 1.8E-03 0 0
CUI: C0025995
Disease: Micromelia
Micromelia
104 0 1 1.8E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
104 0 1 1.8E-03 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
103 0 1 1.8E-03 0 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
100 0 1 1.8E-03 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
96 0 1 1.8E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
93 0 1 1.8E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 1 1.8E-03 0 0
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
91 0 1 1.8E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
90 0 1 1.8E-03 0 0
Pre B-cell acute lymphoblastic leukemia
90 0 1 1.8E-03 0 0
CUI: C0239479
Disease: Round face
Round face
88 0 1 1.8E-03 0 0