Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 450095
Gene Symbol: PLF
PLF
0.010 Biomarker disease BEFREE As growth optimization is an important aspect of CF management, this review will summarize the current knowledge on the prevalence of growth failure in CF patients, and focus on the mechanisms leading to poor growth, on the association of poor linear growth with reduced PFT and on recombinant human growth hormone (rhGH) therapy in CF patients. 31815786 2020
Entrez Id: 10311
Gene Symbol: VPS26C
VPS26C
0.010 Biomarker disease BEFREE The potential vital biological role of VPS26C, the nature of the variant which is predicted to result in loss-of-function, expression studies revealing significant reduction in the mutant transcript, the co-segregation of the homozygous variant with the phenotype in two affected individuals all support that VPS26C is a novel gene associated with a previously unrecognized syndrome characterized by neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.This article is protected by copyright.All rights reserved. 31845315 2020
Entrez Id: 3574
Gene Symbol: IL7
IL7
0.010 Biomarker disease BEFREE IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. 31736942 2019
Entrez Id: 5228
Gene Symbol: PGF
PGF
0.010 GeneticVariation disease BEFREE Growth velocity (GV: g/kg/day), extrauterine growth restriction (%) (EUGR: weight < 10th centile, <i>z</i>-score < -1.28) and postnatal growth failure (PGF: fall in <i>z</i>-score > 1.34) at 36 weeks postmenstrual age (PMA) were calculated. 31739632 2019
Entrez Id: 6813
Gene Symbol: STXBP2
STXBP2
0.010 Biomarker disease BEFREE Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation. 31807395 2019
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.010 GeneticVariation disease BEFREE Here we present a case of VEO-IBD secondary to a mutation in BIRC4 gene, which encodes X-linked inhibitor of apoptosis protein (XIAP), in a 17-month-old boy with severe failure to thrive, intractable diarrhea, and hepatosplenomegaly. 31232887 2019
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
0.010 Biomarker disease BEFREE Though HDAC6 deacetylates α-tubulin, we find that another HDAC6 substrate contributes to this axon growth failure. 31068376 2019
Entrez Id: 112935892
Gene Symbol: LINC02605
LINC02605
0.010 Biomarker disease BEFREE IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. 31736942 2019
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
0.010 GeneticVariation disease BEFREE A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. 31529142 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.010 GeneticVariation disease BEFREE A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). 29907092 2018
Entrez Id: 2213
Gene Symbol: FCGR2B
FCGR2B
0.010 Biomarker disease BEFREE HP induced failure to thrive, increased stomach bacterial burdens and stomach injury (histology and cytokines) in both wild-type and FcγRIIb-/- mice. 30034379 2018
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.010 Biomarker disease BEFREE The melanocortin system has five receptors, and antagonists of the central melanocortin receptors (MC3R, MC4R) are postulated to be viable therapeutics for disorders of negative energy balance such as anorexia, cachexia, and failure to thrive. 29363944 2018
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
0.010 GeneticVariation disease BEFREE Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. 30125608 2018
Entrez Id: 7389
Gene Symbol: UROD
UROD
0.010 Biomarker disease BEFREE The results suggest that UPD(20)mat underlies growth failure and feeding problems with additional features and could account for >5% of etiology-unknown SRS and small percentages of SGA-SS. 29878129 2018
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12
0.010 GeneticVariation disease BEFREE Main clinical features of NLRP12-related AID were periodic fever (100%), abdominal pain and diarrhea (47%), arthralgia (20%), headache (20%) and failure to thrive (33%). 29500522 2018
Entrez Id: 55617
Gene Symbol: TASP1
TASP1
0.010 Biomarker disease BEFREE Taspase 1-deficient mice showed early lethality, skeletal abnormalities, and growth failure, which support a potentially causal role of TASP1 deletion in this infant. 29633245 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.010 GeneticVariation disease BEFREE Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. 30125608 2018
Entrez Id: 23509
Gene Symbol: POFUT1
POFUT1
0.010 GeneticVariation disease BEFREE Here we report a patient with a congenital syndrome consisting of severe global developmental delay, microcephaly, heart defects, failure to thrive and liver disease with a previously unreported homozygous NM_015352.1: c.485C>T variant (p.Ser162Leu) in POFUT1 detected by exome sequencing. 29452367 2018
Entrez Id: 140805
Gene Symbol: HT
HT
0.010 Biomarker disease BEFREE This case emphasizes the need to recognize excessive weight gain and growth failure as an initial presentation of Hashimoto's thyroiditis and highlights management and approach to treatment. 29971222 2018
Entrez Id: 4159
Gene Symbol: MC3R
MC3R
0.010 Biomarker disease BEFREE The melanocortin system has five receptors, and antagonists of the central melanocortin receptors (MC3R, MC4R) are postulated to be viable therapeutics for disorders of negative energy balance such as anorexia, cachexia, and failure to thrive. 29363944 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.010 GeneticVariation disease BEFREE A nonsense mutation identified in the gene encoding an ABC transporter ATP-binding protein (MalK) led to growth failure of an ethyl methanesulfonate-generated mutant with yeast glucans. 28115383 2017
Entrez Id: 10653
Gene Symbol: SPINT2
SPINT2
0.010 Biomarker disease BEFREE Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. 28716867 2017
Entrez Id: 9518
Gene Symbol: GDF15
GDF15
0.010 Biomarker disease BEFREE Importantly, plasma GDF15 is further increased in children with concomitant heart disease and failure to thrive (FTT). 28572090 2017
Entrez Id: 930
Gene Symbol: CD19
CD19
0.010 Biomarker disease BEFREE A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. 27789066 2017