TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.260 Biomarker disease MGD
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD
CUI: C0477984
Disease: Other congenital malformations of anterior segment of eye
Other congenital malformations of anterior segment of eye 		0.200 Biomarker disease MGD
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.200 Biomarker disease MGD
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.200 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		0.180 Biomarker disease HPO
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		0.150 Biomarker disease HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.140 Biomarker disease HPO
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.140 Biomarker phenotype HPO
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		0.130 Biomarker disease HPO
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.130 Biomarker disease HPO
CUI: C0008487
Disease: Chordoma
Chordoma 		0.110 Biomarker disease HPO
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		0.110 Biomarker phenotype HPO
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.110 Biomarker disease HPO
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		0.110 Biomarker disease HPO
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		0.110 Biomarker disease HPO
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		0.110 Biomarker disease HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0008031
Disease: Chest Pain
Chest Pain 		0.100 Biomarker phenotype HPO