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: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		1 2 1 0.33 1 0.12
CUI: C4016957
Disease: BARDET-BIEDL SYNDROME 1/2, DIGENIC
BARDET-BIEDL SYNDROME 1/2, DIGENIC 		1 0 1 0.33 0 0
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		1 0 1 0.33 0 0
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		2 0 1 0.25 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		2 0 1 0.25 0 0
CUI: C2675305
Disease: BARDET-BIEDL SYNDROME 1, MODIFIER OF
BARDET-BIEDL SYNDROME 1, MODIFIER OF 		3 3 1 0.20 1 0.11
CUI: C1408258
Disease: Kidney damage
Kidney damage 		5 6 1 0.14 1 8.3E-02
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 1 0.11 0 0
CUI: C1850191
Disease: Posterior polar cataract
Posterior polar cataract 		8 0 1 1.0E-01 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 2 9.5E-02 0 0
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		9 0 1 9.1E-02 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		10 0 1 8.3E-02 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 0 2 6.9E-02 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 2 6.7E-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 6.2E-02 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		14 0 1 6.2E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 4.5E-02 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 2 4.4E-02 0 0
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes 		21 0 1 4.3E-02 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 31 2 4.1E-02 1 2.7E-02
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 0 1 4.0E-02 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 0 1 3.8E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 2 3.4E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 0 1 3.2E-02 0 0
CUI: C4551492
Disease: Micropenis
Micropenis 		32 21 1 2.9E-02 1 3.7E-02