Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11 		0.600 GeneticVariation disease UNIPROT Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11 		0.600 Biomarker disease GENOMICS_ENGLAND Hereditary hypotrichosis simplex. 9621144 1998
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11 		0.600 CausalMutation disease CLINVAR
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease CTD_human
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GeneticVariation disease BEFREE Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GermlineCausalMutation disease ORPHANET Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		0.200 Therapeutic disease RGD Intravenous injection of a D1 protein of the Smith proteins postpones murine lupus and induces type 1 regulatory T cells. 15494537 2004
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.100 Biomarker phenotype HPO
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		0.100 Biomarker phenotype HPO
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		0.100 Biomarker phenotype HPO
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.010 GeneticVariation disease BEFREE Together, our study links defects in the SNRPE gene to microcephaly and suggests that alterations of cellular splicing of specific mRNAs such as EMX2 results in the neurological phenotype of the disease. 31671093 2019
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.010 GeneticVariation disease BEFREE Here we report the identification of a de novo heterozygous missense mutation in the SNRPE gene (c.65T>C (p.Phe22Ser)) in a patient with non-syndromal primary (congenital) microcephaly and intellectual disability. 31671093 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Here we report the identification of a de novo heterozygous missense mutation in the SNRPE gene (c.65T>C (p.Phe22Ser)) in a patient with non-syndromal primary (congenital) microcephaly and intellectual disability. 31671093 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE One novel tumor suppressor (tripartite motif-containing 35 [TRIM35]) and two putative oncogenes (hairy/enhancer-of-split related with YRPW motif 1 [HEY1] and small nuclear ribonucleoprotein polypeptide E [SNRPE]) were discovered by various in vitro and in vivo tumorigenicity experiments. 21688285 2011
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 AlteredExpression disease BEFREE Dose-dependent suppressions of MMPs and TIMP-2 mRNA levels were observed in SME-6-treated HT1080 human fibrosarcoma cells detected by reverse transcriptase-polymerase chain reaction. 16309669 2005
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 AlteredExpression disease BEFREE Dose-dependent suppressions of MMPs and TIMP-2 mRNA levels were observed in SME-6-treated HT1080 human fibrosarcoma cells detected by reverse transcriptase-polymerase chain reaction. 16309669 2005
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Furthermore, SME-6 inhibited the invasion, motility, and migration of tumor cells. 16309669 2005