Source: CLINVAR ×
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: C4021168
Disease: Slender toe
Slender toe 		2 2 2 0.40 2 0.40
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb 		2 2 2 0.40 2 0.40
CUI: C0015230
Disease: Exanthema
Exanthema 		3 3 2 0.33 2 0.33
CUI: C4021959
Disease: Round ear
Round ear 		4 4 2 0.29 2 0.29
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 7 2 0.22 1 9.1E-02
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 0.20 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 0.20 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 0.20 0 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		1 2 1 0.20 1 0.17
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		7 0 2 0.20 0 0
CUI: C0241165
Disease: Thick skin
Thick skin 		1 0 1 0.20 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		1 0 1 0.20 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		1 27 1 0.20 1 3.2E-02
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		1 0 1 0.20 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		1 0 1 0.20 0 0
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		1 0 1 0.20 0 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		1 0 1 0.20 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		1 0 1 0.20 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		1 1 1 0.20 1 0.20
CUI: C0423867
Disease: Fine hair
Fine hair 		1 1 1 0.20 1 0.20
CUI: C0426422
Disease: Narrow nose
Narrow nose 		1 0 1 0.20 0 0
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		1 43 1 0.20 1 2.1E-02
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		1 0 1 0.20 0 0
CUI: C0871976
Disease: facial features
facial features 		1 1 1 0.20 1 0.20
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		1 1 1 0.20 1 0.20