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: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		1 1 1 1.0E-01 1 7.1E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 2 1.0E-01 1 3.8E-02
CUI: C0405124
Disease: Nuchal Cord
Nuchal Cord 		1 1 1 1.0E-01 1 7.1E-02
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		1 6 1 1.0E-01 1 5.3E-02
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		1 1 1 1.0E-01 1 7.1E-02
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		1 3 1 1.0E-01 2 0.13
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		1 1 1 1.0E-01 1 7.1E-02
CUI: C2678312
Disease: Three M Syndrome 1
Three M Syndrome 1 		1 0 1 1.0E-01 0 0
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		1 15 1 1.0E-01 1 3.6E-02
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		1 13 1 1.0E-01 1 3.8E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		1 0 1 1.0E-01 0 0
CUI: C4022658
Disease: Punctate periventricular T2 hyperintense foci
Punctate periventricular T2 hyperintense foci 		1 1 1 1.0E-01 1 7.1E-02
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		1 1 1 1.0E-01 1 7.1E-02
CUI: C4023278
Disease: Left aortic arch with retroesophageal right subclavian artery
Left aortic arch with retroesophageal right subclavian artery 		1 1 1 1.0E-01 1 7.1E-02
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		1 0 1 1.0E-01 0 0
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
Abnormality of the middle phalanx of the 5th finger 		1 1 1 1.0E-01 1 7.1E-02
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6 		1 3 1 1.0E-01 2 0.13
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 		1 2 1 1.0E-01 1 6.7E-02
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		1 2 1 1.0E-01 1 6.7E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 2 9.5E-02 2 6.9E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		2 0 1 9.1E-02 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		2 2 1 9.1E-02 1 6.7E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		2 0 1 9.1E-02 0 0
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		2 4 1 9.1E-02 1 5.9E-02
CUI: C0343643
Disease: Facial wart
Facial wart 		2 2 1 9.1E-02 1 6.7E-02