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: C0265646
Disease: Talipes Calcaneovarus
Talipes Calcaneovarus 		2 0 1 0.50 0 0
CUI: C1845250
Disease: Small forehead
Small forehead 		4 0 1 0.25 0 0
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		7 19 1 0.14 1 2.4E-02
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		9 0 1 0.11 0 0
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		11 0 1 9.1E-02 0 0
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		14 0 1 7.1E-02 0 0
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		14 0 1 7.1E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 1 5.3E-02 1 3.4E-02
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 1 5.3E-02 0 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		21 0 1 4.8E-02 0 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		26 0 1 3.8E-02 0 0
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		28 0 1 3.6E-02 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		29 0 1 3.4E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 1 3.0E-02 0 0
CUI: C0426870
Disease: Large hand
Large hand 		35 0 1 2.9E-02 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 1 2.8E-02 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 1 2.6E-02 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 1 2.2E-02 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 1.7E-02 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 1 1.6E-02 0 0
CUI: C1298180
Disease: Single tumor
Single tumor 		63 0 1 1.6E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 12 1 1.4E-02 1 2.9E-02
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 1 1.2E-02 0 0
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		90 0 1 1.1E-02 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.1E-02 0 0