Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | disease | BEFREE | In this report we describe a case of Infantile liver failure syndrome 2 (ILFS2; MIM 616483) due to novel bi-allelic variants in the NBAS gene. | 30558828 | 2019 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. | 30772683 | 2019 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | In conclusion, two novel NBAS mutations were identified in a 4‑year‑old Chinese girl with ILFS2. | 29207168 | 2018 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. | 28576691 | 2017 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. | 26073778 | 2015 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. | 26286438 | 2015 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. | 26073778 | 2015 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. | 26073778 | 2015 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.730 | GeneticVariation | disease | CLINVAR | |||||||
|
0.730 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | In this report we describe a case of Infantile liver failure syndrome 2 (ILFS2; MIM 616483) due to novel bi-allelic variants in the NBAS gene. | 30558828 | 2019 |