Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Multiple Endocrine Neoplasia Type 2a
1 35 1 0.17 7 8.7E-02
Multiple Endocrine Neoplasia Type 2b
1 15 1 0.17 6 9.8E-02
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders
1 0 1 0.17 0 0
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
1 20 1 0.17 5 7.5E-02
Schizophrenia Spectrum and Other Psychotic Disorders
1 0 1 0.17 0 0
CUI: C0796094
Disease: Blepharophimosis syndrome Ohdo type
Blepharophimosis syndrome Ohdo type
1 0 1 0.17 0 0
Ohdo syndrome, Maat-Kievit-Brunner type
1 0 1 0.17 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
9 0 2 0.15 0 0
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma
2 0 1 0.14 0 0
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
2 0 1 0.14 0 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
10 0 2 0.14 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
10 0 2 0.14 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain
3 0 1 0.12 0 0
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
3 1 1 0.12 1 1.9E-02
CUI: C0220769
Disease: FG syndrome
FG syndrome
3 0 1 0.12 0 0
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
3 0 1 0.12 0 0
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome
3 0 1 0.12 0 0
CUI: C1306067
Disease: Drug-induced paranoid state
Drug-induced paranoid state
3 0 1 0.12 0 0
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
3 6 1 0.12 1 1.8E-02
Familial medullary thyroid carcinoma
3 25 1 0.12 6 8.5E-02
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder)
3 0 1 0.12 0 0
CUI: C1845567
Disease: FG SYNDROME 3
FG SYNDROME 3
3 0 1 0.12 0 0
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2
3 0 1 0.12 0 0
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
3 0 1 0.12 0 0
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate
3 0 1 0.12 0 0