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: C0030312
Disease: Pancytopenia
Pancytopenia 		9 9 3 0.27 3 0.27
CUI: C0002871
Disease: Anemia
Anemia 		11 14 3 0.23 3 0.19
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		1 3 1 0.20 1 0.14
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		1 1 1 0.20 1 0.20
CUI: C0032285
Disease: Pneumonia
Pneumonia 		7 10 2 0.20 2 0.15
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		1 0 1 0.20 0 0
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		1 17 1 0.20 1 4.8E-02
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		1 8 1 0.20 1 8.3E-02
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		1 3 1 0.20 1 0.14
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1 43 1 0.20 1 2.1E-02
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		1 0 1 0.20 0 0
CUI: C3151471
Disease: AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED 		1 1 1 0.20 1 0.20
CUI: C3468338
Disease: CARPAL TUNNEL SYNDROME, FAMILIAL
CARPAL TUNNEL SYNDROME, FAMILIAL 		1 0 1 0.20 0 0
CUI: C4015970
Disease: ESOPHAGEAL CARCINOMA, SOMATIC
ESOPHAGEAL CARCINOMA, SOMATIC 		1 0 1 0.20 0 0
CUI: C4024794
Disease: Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy 		1 0 1 0.20 0 0
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		1 1 1 0.20 1 0.20
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		2 2 1 0.17 1 0.17
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		2 0 1 0.17 0 0
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1 		2 0 1 0.17 0 0
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		3 5 1 0.14 1 0.11
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		4 7 1 0.12 1 9.1E-02
CUI: C0263498
Disease: Premature canities
Premature canities 		4 4 1 0.12 1 0.12
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 0 1 1.0E-01 0 0
CUI: C0011334
Disease: Dental caries
Dental caries 		7 7 1 9.1E-02 1 9.1E-02
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		7 0 1 9.1E-02 0 0