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: C4016435
Disease: BARDET-BIEDL SYNDROME 1/7, DIGENIC
BARDET-BIEDL SYNDROME 1/7, DIGENIC 		1 1 1 1.00 1 9.1E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 1 5.0E-02 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 0 1 3.6E-02 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 1 3.4E-02 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 1 2.3E-02 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		47 0 1 2.1E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 1 1.2E-02 2 1.2E-02
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.1E-02 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		94 0 1 1.1E-02 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 1 8.8E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 8.3E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 7.0E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 6.8E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 6.3E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 6.3E-03 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 1 5.8E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 5.6E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 1 5.5E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 5.3E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 5.2E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 4.6E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 4.5E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 4.2E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 4.1E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 3.5E-03 0 0