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: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		7 6 2 0.15 1 6.2E-02
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		1 1 1 0.12 1 9.1E-02
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1 94 1 0.12 1 9.6E-03
CUI: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		1 1 1 0.12 1 9.1E-02
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		1 0 1 0.12 0 0
CUI: C0240897
Disease: Retinal exudates
Retinal exudates 		1 1 1 0.12 1 9.1E-02
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema 		1 1 1 0.12 1 9.1E-02
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		1 56 1 0.12 1 1.5E-02
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		1 1 1 0.12 1 9.1E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		10 0 2 0.12 0 0
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 0 1 0.12 0 0
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses 		1 1 1 0.12 1 9.1E-02
CUI: C1844776
Disease: CONE-ROD DYSTROPHY, X-LINKED, 1
CONE-ROD DYSTROPHY, X-LINKED, 1 		1 6 1 0.12 1 6.2E-02
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		1 0 1 0.12 0 0
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture 		1 1 1 0.12 1 9.1E-02
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		1 0 1 0.12 0 0
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		1 0 1 0.12 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1 52 1 0.12 2 3.3E-02
CUI: C2749137
Disease: Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 		1 0 1 0.12 0 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		1 2 1 0.12 2 0.18
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		1 0 1 0.12 0 0
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		1 0 1 0.12 0 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		1 2 1 0.12 2 0.18
CUI: C4016366
Disease: RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE 		1 0 1 0.12 0 0
CUI: C4016579
Disease: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS 		1 0 1 0.12 0 0