Abnormal vertebral morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of cardiovascular system morphology
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1) as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2).
|
29089047 |
2017 |
Abnormality of the first metatarsal bone
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Acquired hallux valgus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor.
|
28473268 |
2017 |
Acute Lung Injury
|
0.300 |
Biomarker
|
disease |
CTD_human |
This approach identified several candidate genes, including Acvr1, associated with increased susceptibility to acute lung injury in mice.
|
21297076 |
2011 |
Adenocarcinoma, Clear Cell
|
0.010 |
Biomarker
|
disease |
BEFREE |
Two cell lines, SKR1 and NKK1, were established from renal cell carcinomas (RCC) with different histopathologic characteristics: SKR1 from grade 3, solid type, pleomorphic cell type carcinoma in a 66-year-old male and NKK1 from grade 2, alveolar type, clear cell carcinoma in a 49-year-old female.
|
9183637 |
1996 |
Adrenal Gland Pheochromocytoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Both type I and type II activin receptor (ActR-I, ActR-IB and ActR-II) mRNA expression was also detectable in the pheochromocytoma tissues.
|
10810314 |
2000 |
Alopecia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Anaplastic astrocytoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
Anaplastic Large Cell Lymphoma, ALK-Positive
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we describe a novel truncated form of the ALK transcript with in-frame skipping through exons 2 to 17 (ALKΔ2-17) in anaplastic large cell lymphoma, ALK-positive.
|
28665006 |
2018 |
Anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Aplasia/Hypoplasia of the phalanges of the hallux
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Arthropathy
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The effects of ACVR1 mutation on the normotopic skeletons of individuals who have FOP extend beyond malformation of the great toes and include both morphological defects and developmental arthropathy.
|
31655222 |
2020 |
Asthma
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
Compared with the normal airway, there was significant down-regulation of ALK-2 (P = 0.001), ALK-6 (P = 0.0009), and BMPRII (P = 0.009) expression in asthma.
|
18292470 |
2008 |
Astrocytoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
K27M-H3.1 and ACVR1 mutations as well as ALT phenotype were only found in WHO grade III-IV astrocytomas, while PIK3CA mutations and PDGFRA gains/amplifications were found in WHO grade II-IV astrocytomas.
|
25047029 |
2014 |
Astrocytoma
|
0.320 |
Biomarker
|
disease |
CTD_human |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
Astrocytoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
ATRIOVENTRICULAR CANAL DEFECT
|
0.010 |
Biomarker
|
disease |
BEFREE |
Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect.
|
21248739 |
2011 |
Atrioventricular Septal Defect
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In vivo analysis of zebrafish embryos injected with ALK2 L343P RNA revealed improper atrioventricular canal formation.
|
19506109 |
2009 |
Atypical Lipoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
K27M-H3.1 and ACVR1 mutations as well as ALT phenotype were only found in WHO grade III-IV astrocytomas, while PIK3CA mutations and PDGFRA gains/amplifications were found in WHO grade II-IV astrocytomas.
|
25047029 |
2014 |
Brain Stem Glioma
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Breast Carcinoma
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
We performed a systematic expression survey of BMPs and their receptors in breast cancer. mRNA expression was studied of seven BMP ligands (BMP2-BMP8) and six receptors (ACVR1, BMPR1A, BMPR1B, BMPR2, ACVR2A, and ACVR2B) that specifically mediate BMP signals.
|
17004110 |
2007 |
Breast Carcinoma
|
0.330 |
Biomarker
|
disease |
BEFREE |
In conclusion, our findings revealed functional and mechanistic links between miR-384 and ACVR1 in the progression of breast cancer. miR-384 not only plays an important role in the progression of breast cancer, but has promise as a potential therapeutic target for breast cancer especially for TNBC.
|
29693185 |
2018 |
Breast Carcinoma
|
0.330 |
Biomarker
|
disease |
CTD_human |
Genetic variation in bone morphogenetic proteins and breast cancer risk in hispanic and non-hispanic white women: The breast cancer health disparities study.
|
23180569 |
2013 |
Breast Carcinoma
|
0.330 |
Biomarker
|
disease |
BEFREE |
These observations indicate that ALK2 is a potential therapeutic agent for the treatment of breast cancer.
|
28075462 |
2017 |