SNX10, sorting nexin 10, 29887

N. diseases: 83; N. variants: 7
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
disease Disease or Syndrome 1 4 0.700 strong 1.000 3 4 2012 2013
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis
disease Musculoskeletal Diseases Congenital Abnormality 13 0.310 None 0.667 3 2012 2015
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.310 None 1.000 2 2017 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.300 None 1.000 1 2017 2017
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.140 None 1.000 4 1 2012 2017
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 1 2019 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2017 2017
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2017 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0271344
Disease: Compression of optic nerve
Compression of optic nerve
phenotype Eye Diseases; Nervous System Diseases Disease or Syndrome 8 0.100 None 0
Precocious exfoliation of primary tooth
phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0242567
Disease: Opsoclonus
Opsoclonus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0
phenotype Finding 67 0.100 None 0
Abnormality of temperature regulation
phenotype Finding 19 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
disease Anatomical Abnormality 97 0.100 None 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture
disease Finding 15 1 0.100 None 0