TONSL, tonsoku like, DNA repair protein, 4796

N. diseases: 67; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1300260
Disease: Spondyloepimetaphyseal dysplasia, sponastrime type
Spondyloepimetaphyseal dysplasia, sponastrime type 		0.320 GermlineCausalMutation disease ORPHANET Overall, these findings indicate that genetic variants resulting in reduced function of TONSL cause SPONASTRIME dysplasia and highlight the importance of TONSL in embryonic development and postnatal growth. 30773278 2019
CUI: C1300260
Disease: Spondyloepimetaphyseal dysplasia, sponastrime type
Spondyloepimetaphyseal dysplasia, sponastrime type 		0.320 GeneticVariation disease BEFREE Overall, these findings indicate that genetic variants resulting in reduced function of TONSL cause SPONASTRIME dysplasia and highlight the importance of TONSL in embryonic development and postnatal growth. 30773278 2019
CUI: C1300260
Disease: Spondyloepimetaphyseal dysplasia, sponastrime type
Spondyloepimetaphyseal dysplasia, sponastrime type 		0.320 GeneticVariation disease BEFREE Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. 30773277 2019
CUI: C1300260
Disease: Spondyloepimetaphyseal dysplasia, sponastrime type
Spondyloepimetaphyseal dysplasia, sponastrime type 		0.320 GermlineCausalMutation disease ORPHANET Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. 30773277 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 AlteredExpression disease BEFREE TONSL was predictively targeted by miR-133b, which was downregulated in HCC and negatively related to TONSL mRNA expression (all P < 0.05). 30723051 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.100 Biomarker disease HPO
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		0.100 Biomarker phenotype HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.100 Biomarker disease HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO