TXNL4A, thioredoxin like 4A, 10907

N. diseases: 39; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 GeneticVariation disease BEFREE Hence, we identified causative recessive variants in TXNL4A in two individuals with BMKS as well as in three individuals (from two families) with isolated choanal atresia. 28905882 2017
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 Biomarker disease BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 GermlineCausalMutation disease ORPHANET We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). 25434003 2014
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 CausalMutation disease CLINVAR We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). 25434003 2014
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). 25434003 2014
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 GeneticVariation disease BEFREE We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). 25434003 2014
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 Biomarker disease CTD_human
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease GENOMICS_ENGLAND Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.100 Biomarker group HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0578038
Disease: Thin lips
Thin lips 		0.100 Biomarker phenotype HPO