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: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		1 0 1 1.1E-02 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 0 1 1.1E-02 0 0
CUI: C0221262
Disease: Poliosis
Poliosis 		1 0 1 1.1E-02 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 1.1E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		1 0 1 1.1E-02 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		1 0 1 1.1E-02 0 0
CUI: C0239119
Disease: Lenticonus
Lenticonus 		1 0 1 1.1E-02 0 0
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		1 0 1 1.1E-02 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0263870
Disease: Narrowing of intervertebral disc space
Narrowing of intervertebral disc space 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		1 22 1 1.1E-02 1 3.6E-03
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 0 1 1.1E-02 0 0
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1 23 1 1.1E-02 14 5.3E-02
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1 0 1 1.1E-02 0 0
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		1 21 1 1.1E-02 13 4.9E-02
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		1 21 1 1.1E-02 13 4.9E-02
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		1 8 1 1.1E-02 1 3.8E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1 13 1 1.1E-02 3 1.1E-02
CUI: C0268276
Disease: Juvenile GM 2 gangliosidosis
Juvenile GM 2 gangliosidosis 		1 0 1 1.1E-02 0 0
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1 179 1 1.1E-02 1 2.3E-03
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		1 0 1 1.1E-02 0 0