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: C0152427
Disease: Polydactyly
Polydactyly 		24 37 12 0.34 12 6.6E-02
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 10 0.27 12 6.9E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		6 56 5 0.21 15 7.6E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 5 0.16 4 2.4E-02
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 62 5 0.16 4 1.9E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 6 0.16 1 4.8E-03
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 12 4 0.13 4 2.4E-02
CUI: C0035637
Disease: Rinderpest
Rinderpest 		3 5 3 0.13 5 3.2E-02
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		3 5 3 0.13 5 3.2E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		6 6 3 0.12 2 1.2E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 5 0.11 3 1.5E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 10 9.9E-02 10 1.8E-02
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		2 1 2 8.7E-02 1 6.4E-03
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		2 2 2 8.7E-02 2 1.3E-02
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		2 1 2 8.7E-02 1 6.4E-03
CUI: C1441613
Disease: Immune diffusion
Immune diffusion 		2 1 2 8.7E-02 1 6.4E-03
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		2 2 2 8.7E-02 1 6.3E-03
CUI: C3810324
Disease: MORBID OBESITY AND SPERMATOGENIC FAILURE
MORBID OBESITY AND SPERMATOGENIC FAILURE 		2 0 2 8.7E-02 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		2 5 2 8.7E-02 2 1.3E-02
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx 		2 1 2 8.7E-02 1 6.4E-03
CUI: C4022906
Disease: Delayed social development
Delayed social development 		2 1 2 8.7E-02 1 6.4E-03
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		2 1 2 8.7E-02 1 6.4E-03
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		3 2 2 8.3E-02 1 6.3E-03
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 16 3 8.3E-02 1 5.8E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 0 3 8.3E-02 0 0