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: C4303860
Disease: Craniofacial ulnar renal syndrome
Craniofacial ulnar renal syndrome 		3 0 3 0.50 0 0
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		4 0 3 0.43 0 0
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		2 0 2 0.33 0 0
CUI: C3277117
Disease: Caudal appendage
Caudal appendage 		6 0 3 0.33 0 0
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 0 3 0.30 0 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		13 3 4 0.27 1 0.33
CUI: C0796279
Disease: Carnevale syndrome
Carnevale syndrome 		4 0 2 0.25 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 3 0.25 0 0
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		6 0 2 0.20 0 0
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		1 0 1 0.17 0 0
CUI: C1859406
Disease: Borrone Di Rocco Crovato syndrome
Borrone Di Rocco Crovato syndrome 		1 0 1 0.17 0 0
CUI: C1968942
Disease: Abnormal sacral segmentation
Abnormal sacral segmentation 		1 0 1 0.17 0 0
CUI: C2697767
Disease: Interleukin 19 Measurement
Interleukin 19 Measurement 		1 0 1 0.17 0 0
CUI: C3264175
Disease: Ocular hypertension, bilateral
Ocular hypertension, bilateral 		1 0 1 0.17 0 0
CUI: C4025228
Disease: Partial abdominal muscle agenesis
Partial abdominal muscle agenesis 		1 0 1 0.17 0 0
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		1 0 1 0.17 0 0
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		1 8 1 0.17 1 0.12
CUI: C1839822
Disease: Anterior concavity of thoracic vertebrae
Anterior concavity of thoracic vertebrae 		2 0 1 0.14 0 0
CUI: C1850044
Disease: Prominent protruding coccyx
Prominent protruding coccyx 		2 0 1 0.14 0 0
CUI: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		2 1 1 0.14 1 1.00
CUI: C1850336
Disease: Single interphalangeal crease of fifth finger
Single interphalangeal crease of fifth finger 		2 0 1 0.14 0 0
CUI: C1856644
Disease: Absent/hypoplastic coccyx
Absent/hypoplastic coccyx 		2 1 1 0.14 1 1.00
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
Hypoplastic coccygeal vertebrae 		2 1 1 0.14 1 1.00
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		18 0 3 0.14 0 0
CUI: C4023172
Disease: Broad chin
Broad chin 		2 0 1 0.14 0 0