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: C0860439
Disease: Mottled pigmentation
Mottled pigmentation 		5 0 2 0.22 0 0
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		5 0 2 0.22 0 0
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity 		5 0 2 0.22 0 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		5 0 2 0.22 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 3 0.21 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 2 0.20 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 0 2 0.20 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		6 0 2 0.20 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		6 0 2 0.20 0 0
CUI: C1862152
Disease: Aplasia/Hypoplasia of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand 		7 1 2 0.18 1 1.00
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		7 0 2 0.18 0 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		14 0 3 0.18 0 0
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block 		1 0 1 0.17 0 0
CUI: C0432269
Disease: Lenz Majewski hyperostotic dwarfism
Lenz Majewski hyperostotic dwarfism 		1 0 1 0.17 0 0
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		1 0 1 0.17 0 0
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		1 0 1 0.17 0 0
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
SAUL-WILSON SYNDROME 		1 1 1 0.17 1 1.00
CUI: C1835380
Disease: Labial pseudohypertrophy
Labial pseudohypertrophy 		1 0 1 0.17 0 0
CUI: C1835389
Disease: Increased intramuscular fat
Increased intramuscular fat 		1 0 1 0.17 0 0
CUI: C1835470
Disease: Progressive sclerosis of skull base
Progressive sclerosis of skull base 		1 0 1 0.17 0 0
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		1 0 1 0.17 0 0
CUI: C1837781
Disease: Increased subcutaneous truncal adipose tissue
Increased subcutaneous truncal adipose tissue 		1 0 1 0.17 0 0
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		8 0 2 0.17 0 0
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		1 0 1 0.17 0 0
CUI: C1861693
Disease: Cervical Vertebral Dysplasia
Cervical Vertebral Dysplasia 		1 0 1 0.17 0 0