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: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		5 0 2 0.25 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 0 2 0.22 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 2 0.22 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		6 0 2 0.22 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		6 0 2 0.22 0 0
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block 		1 0 1 0.20 0 0
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		1 0 1 0.20 0 0
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		1 0 1 0.20 0 0
CUI: C1835380
Disease: Labial pseudohypertrophy
Labial pseudohypertrophy 		1 0 1 0.20 0 0
CUI: C1835389
Disease: Increased intramuscular fat
Increased intramuscular fat 		1 0 1 0.20 0 0
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		1 0 1 0.20 0 0
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		1 0 1 0.20 0 0
CUI: C2675074
Disease: Enlarged peripheral nerve
Enlarged peripheral nerve 		1 0 1 0.20 0 0
CUI: C2698314
Disease: B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 		1 0 1 0.20 0 0
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		1 0 1 0.20 0 0
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset 		1 0 1 0.20 0 0
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		1 0 1 0.20 0 0
CUI: C2930922
Disease: Reginato Schiapachasse syndrome
Reginato Schiapachasse syndrome 		1 0 1 0.20 0 0
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		7 0 2 0.20 0 0
CUI: C4015242
Disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME 		1 0 1 0.20 0 0
CUI: C4016241
Disease: HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL 		1 0 1 0.20 0 0
CUI: C4021684
Disease: Sclerosis of hand bone
Sclerosis of hand bone 		1 0 1 0.20 0 0
CUI: C4022125
Disease: Aplasia of the phalanges of the 3rd toe
Aplasia of the phalanges of the 3rd toe 		1 0 1 0.20 0 0
CUI: C4023222
Disease: Abnormal electrophysiology of sinoatrial node origin
Abnormal electrophysiology of sinoatrial node origin 		1 0 1 0.20 0 0
CUI: C4025114
Disease: Aphalangy of the hands
Aphalangy of the hands 		1 0 1 0.20 0 0