RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 CausalMutation disease CLINVAR
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease CTD_human
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 CausalMutation disease CLINVAR
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 Biomarker disease CTD_human
CUI: C4551957
Disease: Epilepsy, Familial Temporal Lobe 1
Epilepsy, Familial Temporal Lobe 1 		0.310 Biomarker disease CTD_human
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.140 Biomarker disease HPO
CUI: C0024236
Disease: Lymphedema
Lymphedema 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.100 Biomarker disease HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0234974
Disease: Simple Partial Seizures
Simple Partial Seizures 		0.100 Biomarker phenotype HPO
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		0.100 Biomarker disease HPO
CUI: C1838063
Disease: Focal sensory auditory seizure
Focal sensory auditory seizure 		0.100 Biomarker phenotype HPO
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		0.100 Biomarker phenotype HPO
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		0.100 Biomarker disease HPO
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. 7682675 1993
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 AlteredExpression disease BEFREE A protein putatively functioning as an intracellular target for the signal-transduction cascade triggered by RELN protein released into the extracellular matrix is termed mouse disabled-1 (DAB1) and is expressed at comparable levels in the neuroplasm of the PFC and hippocampal pyramidal neurons, cerebellar Purkinje neurons of schizophrenia patients, and nonpsychiatric subjects; these three types of neurons do not express RELN protein. 9861036 1998
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		0.010 AlteredExpression disease BEFREE In all of the brain areas studied, RELN and its mRNA were significantly reduced (approximately 50%) in patients with schizophrenia; this decrease was similar in patients affected by undifferentiated or paranoid schizophrenia. 9861036 1998
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease RGD Significantly, thyroid-dependent regulation of reelin and dab1 was confirmed in vivo and in vitro by hormone treatment of hypothyroid rats and organotypic cultures, respectively. 10436054 1999