RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease CTD_human
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 GeneticVariation disease CLINVAR
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 CausalMutation disease CLINVAR
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.410 CausalMutation disease CLINVAR
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.300 Biomarker disease CTD_human
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.100 Biomarker disease HPO
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.100 Biomarker disease HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		0.100 Biomarker phenotype HPO
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		0.100 Biomarker phenotype HPO