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: C1863732
Disease: Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations 		2 0 1 0.50 0 0
CUI: C4022716
Disease: Bilateral breast hypoplasia
Bilateral breast hypoplasia 		3 0 1 0.33 0 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		6 0 1 0.17 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 0 1 0.12 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 0 1 0.11 0 0
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		10 0 1 1.0E-01 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 1 5.9E-02 0 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		17 0 1 5.9E-02 0 0
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		24 0 1 4.2E-02 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 1 3.3E-02 0 0
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		35 0 1 2.9E-02 0 0
CUI: C0239399
Disease: Short extremities
Short extremities 		38 0 1 2.6E-02 0 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		43 0 1 2.3E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 1 1.8E-02 0 0
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		64 0 1 1.6E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 1.4E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 1.1E-02 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 1 7.8E-03 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 1 7.8E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 7.7E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 7.3E-03 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 1 6.8E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 1 6.3E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 4.5E-03 0 0
CUI: C0028259
Disease: Nodule
Nodule 		278 0 1 3.6E-03 0 0