Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 874
Gene Symbol: CBR3
CBR3
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.010 GeneticVariation BEFREE Regarding the docetaxel phase, high levels of abdominal pain and mucositis were related to CBR3 gene (rs8133052) polymorphism and diabetes respectively. 31056713

2020

Entrez Id: 667
Gene Symbol: DST
DST
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.010 GeneticVariation BEFREE The human disease resulting from dystonin loss-of-function, known as hereditary sensory and autonomic neuropathy type VI (HSAN-VI), has also been associated with gastrointestinal (GI) symptoms including chronic diarrhea and abdominal pain. 31814231

2020

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.010 Biomarker BEFREE Both ozone applications decreased RANKL-positive cell counts, TO application decreased HIF-1-α positive cells counts, and SO application was found to be more effective in reducing ABL compared to control group. 31800874

2020

Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.010 Biomarker BEFREE The goal of the present study was to determine the effect of systemic and topical ozone application on alveolar bone loss (ABL) by evaluating the effect of Hypoxia-inducible factor -1 alpha (HIF-1-α) and receptor activator of NF-kB ligand (RANKL)-positive cells on histopathological and immunohistochemical changes in a rat periodontitis model. 31800874

2020

Entrez Id: 145282
Gene Symbol: MIPOL1
MIPOL1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE Mirror Image Polydactyly 1 (MIPOL1) is generally associated with congenital anomalies. 31609475

2020

Entrez Id: 84172
Gene Symbol: POLR1B
POLR1B
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE Pathogenic variants in the RNA polymerase I subunit POLR1B might induce massive p53-dependent apoptosis in a restricted neuroepithelium area, altering NCC migration and causing cranioskeletal malformations. 31649276

2020

Entrez Id: 3166
Gene Symbol: HMX1
HMX1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation BEFREE The strongest significant SNP was identified on OAR6, approximating the evolutionarily conserved region of the HMX1 gene, which is related to congenital malformations of the external ear in other species such as cattle and rats. 31691317

2020

Entrez Id: 3692
Gene Symbol: EIF6
EIF6
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE The prevalence of tumor growth, miscarriage, preterm, low birth weight, congenital malformations and impairment in neuropsychological development in children among women treated with CAB were assessed in a Brazilian multicentre retrospective observational study, RESULTS: We included 194 women with a mean age of 31 (17-45) years, 43.6% presenting microadenomas and 56.4% macroadenomas, at prolactinoma diagnosis. 31728906

2020

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation BEFREE ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (CSS, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by neurodevelopment delay, craniofacial dysmorphisms and skeletal anomalies. 31421289

2020

Entrez Id: 56654
Gene Symbol: NPDC1
NPDC1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE The prevalence of tumor growth, miscarriage, preterm, low birth weight, congenital malformations and impairment in neuropsychological development in children among women treated with CAB were assessed in a Brazilian multicentre retrospective observational study, RESULTS: We included 194 women with a mean age of 31 (17-45) years, 43.6% presenting microadenomas and 56.4% macroadenomas, at prolactinoma diagnosis. 31728906

2020

Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. 31833199

2020

Entrez Id: 3982
Gene Symbol: LIM2
LIM2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 AlteredExpression BEFREE High levels of MPs (20 and 200 μg/L) decreased the hatchability, delayed the hatching time, and suppressed the growth, whereas Phe inhibited hatching and caused malformations in larvae. 31759759

2020

Entrez Id: 759
Gene Symbol: CA1
CA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE The prevalence of tumor growth, miscarriage, preterm, low birth weight, congenital malformations and impairment in neuropsychological development in children among women treated with CAB were assessed in a Brazilian multicentre retrospective observational study, RESULTS: We included 194 women with a mean age of 31 (17-45) years, 43.6% presenting microadenomas and 56.4% macroadenomas, at prolactinoma diagnosis. 31728906

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation BEFREE These results suggest that BRCA and MMR genes play an important role in human embryogenesis and that if their function is lowered because of heterozygote mutations, congenital malformations are either more likely (BRCA1 mutations) and/or more susceptible to concern several anatomical systems. 30785647

2020

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE Among 32-36 week births, all minority groups had higher risk of death from congenital anomalies than White British, the highest rate ratios being 4.50 (3.78 to 5.37) for Pakistani, 2.89 (2.10 to 3.97) for Bangladeshi and 2.06 (1.59 to 2.68) for Black African; risks of death from congenital anomalies and combined rarer causes (infection, intrapartum conditions, SIDS and unclassified) increased with deprivation, the rate ratios comparing the most with the least deprived quintile being, respectively, 1.54 (1.22 to 1.93) and 2.05 (1.55 to 2.72). 31123058

2020

Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE Here, we showed that ventriculomegaly in Gldc-deficient mice is preceded by stenosis of the Sylvian aqueduct and malformation or absence of the sub-commissural organ and pineal gland. 31794432

2020

Entrez Id: 5139
Gene Symbol: PDE3A
PDE3A
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation BEFREE Our study not only adds to the spectrum of PDE3A mutations in the Chinese population and extends the phenotype of HTNB patients to include vertebral malformation but also improves the awareness of pathogenesis in HTNB patients. 31549136

2020

Entrez Id: 2149
Gene Symbol: F2R
F2R
CUI: C0000833
Disease: Abscess
Abscess
0.010 Biomarker BEFREE In contrast, infected PAR-1<sup>ΔM</sup> mice lost less weight and had fewer crypt abscesses relative to controls. 31539206

2020

Entrez Id: 7096
Gene Symbol: TLR1
TLR1
CUI: C0000833
Disease: Abscess
Abscess
0.010 GeneticVariation BEFREE Polymorphisms in TLR1 and TLR6 influence the severity of cSSSIs as assessed by the lesion size of major abscesses and DFIs. 31786695

2020

Entrez Id: 10333
Gene Symbol: TLR6
TLR6
CUI: C0000833
Disease: Abscess
Abscess
0.010 Biomarker BEFREE Polymorphisms in TLR1 and TLR6 influence the severity of cSSSIs as assessed by the lesion size of major abscesses and DFIs. 31786695

2020

Entrez Id: 114609
Gene Symbol: TIRAP
TIRAP
CUI: C0000833
Disease: Abscess
Abscess
0.010 GeneticVariation BEFREE A total of 121 patients with major abscesses and 132 with DFIs participating in a randomized clinical trial were genotyped for 13 nonsynonymous single-nucleotide polymorphisms (SNPs) in genes coding for TLRs and the signaling adaptor molecule TIRAP. 31786695

2020

Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation BEFREE Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing. 31785455

2020

Entrez Id: 8972
Gene Symbol: MGAM
MGAM
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.010 Biomarker BEFREE The currently available α-glucosidase inhibitors, for instance, acarbose have some side effects such as hypoglycemia at higher doses, liver problems, meteorism, diarrhea, and lactic acidosis. 31553294

2020

Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.010 Biomarker BEFREE The currently available α-glucosidase inhibitors, for instance, acarbose have some side effects such as hypoglycemia at higher doses, liver problems, meteorism, diarrhea, and lactic acidosis. 31553294

2020

Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 Biomarker BEFREE Our data suggested that PCT alleviated P. acnes-induced HaCaT cell proliferation and migration through its antioxidant and anti-inflammatory roles, suggesting the potential of PCT to treat AV. 31728743

2020