SNX10, sorting nexin 10, 29887

N. diseases: 83; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700 CausalMutation disease CLINVAR
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700 Biomarker disease CTD_human
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.140 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis
0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.100 Biomarker disease HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0029882
Disease: Otitis Media
Otitis Media
0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor
0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
0.100 Biomarker phenotype HPO
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies
0.100 Biomarker disease HPO
CUI: C0151825
Disease: Bone pain
Bone pain
0.100 Biomarker phenotype HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.100 Biomarker phenotype HPO