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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 6.2E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 1 7.1E-03 1 1.5E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 0 1 9.0E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 0 1 9.3E-03 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 0 1 9.3E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 1 9.5E-03 1 6.5E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 9.6E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 9.7E-03 0 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 0 1 9.7E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 9.9E-03 3 2.3E-02
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 0 1 1.0E-02 0 0
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 0 1 1.0E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 0 1 1.0E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 1.0E-02 0 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		23 0 1 1.0E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 0 1 1.0E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 1 1.0E-02 1 4.0E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 0 1 1.0E-02 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 0 1 1.1E-02 0 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		22 0 1 1.1E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 1.1E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 21 1 1.1E-02 1 8.8E-03
CUI: C1854114
Disease: Short nose
Short nose 		20 0 1 1.1E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 1.1E-02 2 1.6E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 1 1.1E-02 1 8.9E-03