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: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 9 0.22 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 6 16 0.20 1 5.6E-02
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 11 0.14 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 9 0.13 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 9 0.12 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 10 0.11 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 10 0.11 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 11 1.0E-01 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 5 8.9E-02 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 6 8.7E-02 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 6 8.7E-02 0 0
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		3 0 3 8.3E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 10 8.2E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 8 8.2E-02 0 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		4 2 3 8.1E-02 1 7.1E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 16 12 7.9E-02 1 3.6E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 9 7.9E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 5 7.8E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 15 7.4E-02 0 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		8 0 3 7.3E-02 0 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 0 3 6.8E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 4 6.5E-02 2 3.5E-02
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 3 3 6.0E-02 2 0.14
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 4 6.0E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 18 6.0E-02 2 4.0E-02