Source: ALL
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: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		7 0 3 7.5E-02 0 0
CUI: C0345244
Disease: Neuronal intestinal dysplasia
Neuronal intestinal dysplasia 		8 0 3 7.3E-02 0 0
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		9 0 3 7.1E-02 0 0
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		56 38 6 7.0E-02 1 2.1E-02
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		87 0 8 7.0E-02 0 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		26 0 4 6.9E-02 0 0
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		57 0 6 6.9E-02 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 4 6.7E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 0 4 6.7E-02 0 0
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		14 0 3 6.4E-02 0 0
CUI: C0242670
Disease: Persistent Vegetative State
Persistent Vegetative State 		15 0 3 6.2E-02 0 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test 		15 0 3 6.2E-02 0 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine 		15 0 3 6.2E-02 0 0
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		69 44 6 6.1E-02 1 1.9E-02
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 3 6.0E-02 0 0
CUI: C4042906
Disease: Mammary Analogue Secretory Carcinoma
Mammary Analogue Secretory Carcinoma 		17 0 3 6.0E-02 0 0
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid 		35 16 4 6.0E-02 1 3.8E-02
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor 		18 0 3 5.9E-02 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 3 5.8E-02 0 0
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma 		19 0 3 5.8E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 6 5.8E-02 0 0
CUI: C1333280
Disease: Desmoplastic melanoma
Desmoplastic melanoma 		20 0 3 5.7E-02 0 0
CUI: C0345240
Disease: Total intestinal aganglionosis
Total intestinal aganglionosis 		2 2 2 5.6E-02 2 0.18
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		22 0 3 5.5E-02 0 0
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor 		42 0 4 5.4E-02 0 0