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: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		1 0 1 0.50 0 0
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		1 0 1 0.50 0 0
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		1 0 1 0.50 0 0
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		1 0 1 0.50 0 0
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		1 0 1 0.50 0 0
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
CATARACT 32, MULTIPLE TYPES 		1 0 1 0.50 0 0
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus 		1 0 1 0.50 0 0
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		1 0 1 0.50 0 0
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		1 0 1 0.50 0 0
CUI: C4072980
Disease: Exudative vitreoretinopathy
Exudative vitreoretinopathy 		1 0 1 0.50 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 0.50 0 0
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		1 0 1 0.50 0 0
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		2 4 1 0.33 1 0.20
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		2 13 1 0.33 1 7.1E-02
CUI: C0039538
Disease: Teratoma
Teratoma 		2 0 1 0.33 0 0
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		2 14 1 0.33 1 6.7E-02
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		2 0 1 0.33 0 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		3 0 1 0.25 0 0
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		3 5 1 0.25 1 0.17
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		3 0 1 0.25 0 0
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 0 1 0.25 0 0
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 0 1 0.25 0 0
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 0 1 0.25 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		3 0 1 0.25 0 0
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 0 1 0.25 0 0