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Mammalian Phenotype (MP): abnormal cardiovascular system morphology
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Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: MP Hierarchy (mammalian/mouse phenotype from MGI_4.41)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Superfamily domains annotated to this MP term (Not in SDMP)
Highlighted in gray are those with FDR_all>0.001
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Family domains annotated to this MP term (Not in SDMP)
Highlighted in gray are those with FDR_all>0.001
SCOP term | FDR (all) | Annotation (direct or inherited) |
Transcriptional factor tubby, C-terminal domain | 0 | DIRECT |
SMAD MH1 domain | 0 | DIRECT |
Nitric oxide (NO) synthase oxygenase domain | 0 | DIRECT |
Interleukin-1 (IL-1) | 0 | DIRECT |
SMAD domain | 0 | DIRECT |
Retinoblastoma tumor suppressor domains | 0 | DIRECT |
SRF-like | 0 | DIRECT |
Cytochrome p450 reductase N-terminal domain-like | 0 | DIRECT |
Growth factor receptor domain | 0.00000000818 | DIRECT |
Extracellular domain of cell surface receptors | 0.0001616 | DIRECT |
L domain | 0.0003528 | DIRECT |
VWC domain | 0.0005273 | DIRECT |
DIX domain | 0.001222 | INHERITED FROM: transposition of great arteries || double outlet right ventricle || persistent truncus arteriosis || abnormal heart morphology || abnormal truncus arteriosus septation || abnormal cardiovascular development || abnormal aorticopulmonary septum morphology |
Integrin beta EGF-like domains | 0.001642 | INHERITED FROM: abnormal blood vessel morphology || abnormal angiogenesis |
T-box | 0.00193 | INHERITED FROM: abnormal heart development || abnormal atrioventricular valve morphology || atrial septal defect |
Spectrin repeat | 0.00313 | INHERITED FROM: abnormal myocardium layer morphology |
Notch domain | 0.004127 | INHERITED FROM: abnormal blood vessel morphology || abnormal cardiovascular development || abnormal retinal blood vessel morphology || abnormal angiogenesis || abnormal artery morphology || pericardial edema |
NADPH-cytochrome p450 reductase-like | 0.004127 | INHERITED FROM: visceral vascular congestion || abnormal heart ventricle morphology || abnormal coronary vessel morphology || abnormal heart weight || abnormal kidney capillary morphology || liver vascular congestion || abnormal cardiovascular development || abnormal capillary morphology || abnormal lung vasculature morphology || glomerular capillary thrombosis || abnormal coronary artery morphology || pulmonary vascular congestion || perivascular fibrosis || abnormal angiogenesis || arteriosclerosis || abnormal glomerular capillary morphology || abnormal kidney thrombosis || abnormal liver vasculature morphology || abnormal artery morphology || abnormal kidney blood vessel morphology || thick ventricular wall || vasculature congestion |
NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.004127 | INHERITED FROM: visceral vascular congestion || abnormal heart ventricle morphology || abnormal coronary vessel morphology || abnormal heart weight || abnormal kidney capillary morphology || liver vascular congestion || abnormal cardiovascular development || abnormal capillary morphology || abnormal lung vasculature morphology || glomerular capillary thrombosis || abnormal coronary artery morphology || pulmonary vascular congestion || perivascular fibrosis || abnormal angiogenesis || arteriosclerosis || abnormal glomerular capillary morphology || abnormal kidney thrombosis || abnormal liver vasculature morphology || abnormal artery morphology || abnormal kidney blood vessel morphology || thick ventricular wall || vasculature congestion |
Integrin beta tail domain | 0.004962 | INHERITED FROM: abnormal blood vessel morphology |
Pointed domain | 0.004962 | INHERITED FROM: abnormal vascular development || abnormal blood vessel morphology || abnormal cardiovascular development || dilated vasculature |
ZZ domain | 0.01242 | INHERITED FROM: abnormal vitelline vasculature morphology || abnormal myocardium layer morphology |
Inhibitor of apoptosis (IAP) repeat | 0.01418 | INHERITED FROM: abnormal heart atrium morphology || abnormal pericardium morphology || abnormal pericardial cavity morphology || enlarged pericardium || hemopericardium |
Kringle modules | 0.02257 | INHERITED FROM: choroidal neovascularization || abnormal choroid vasculature morphology || decreased susceptibility to induced choroidal neovascularization |
EGF-type module | 0.03015 | INHERITED FROM: abnormal cardinal vein morphology || abnormal aorta elastic fiber morphology || abnormal direction of heart looping || abnormal vascular plexus formation || abnormal aorta tunica media morphology || trabecula carnea hypoplasia || abnormal aorta morphology |
alpha-catenin/vinculin | 0.03845 | INHERITED FROM: dilated heart || dilated cardiomyopathy |
Transforming growth factor (TGF)-beta | 0.0741 | INHERITED FROM: absent vitelline blood vessels || atrioventricular septal defect || complete atrioventricular septal defect || abnormal atrioventricular valve morphology || atrial septal defect || abnormal atrioventricular cushion morphology || abnormal heart position or orientation |
Fibroblast growth factors (FGF) | 0.1038 | INHERITED FROM: abnormal heart atrium morphology || abnormal subclavian artery morphology || abnormal right subclavian artery morphology || abnormal aortic arch and aortic arch branch attachment || aberrant origin of the right subclavian artery || heart hypoplasia |
Hairy Orange domain | 0.1201 | INHERITED FROM: abnormal heart ventricle outflow tract morphology || ventricular septal defect || increased heart ventricle size || abnormal cardiac epithelial to mesenchymal transition || abnormal pulmonary valve morphology || abnormal interventricular septum membranous part morphology || abnormal heart right ventricle morphology || perimembraneous ventricular septal defect || abnormal atrioventricular valve morphology || abnormal heart valve morphology || abnormal atrioventricular cushion morphology || abnormal heart atrium and ventricle connection || abnormal interventricular septum morphology || heart right ventricle outflow tract stenosis || thick pulmonary valve || pulmonary valve stenosis || abnormal fetal atrioventricular canal morphology || abnormal heart right ventricle outflow tract morphology || abnormal semilunar valve morphology |
ets domain | 0.1266 | INHERITED FROM: abnormal vascular development || abnormal vascular endothelial cell morphology |
Protein kinases, catalytic subunit | 0.1322 | INHERITED FROM: abnormal myocardium layer morphology || abnormal placenta vasculature |
Forkhead DNA-binding domain | 0.1369 | INHERITED FROM: abnormal aortic arch morphology || ventricular septal defect || disorganized myocardium |
Frizzled cysteine-rich domain | 0.1499 | INHERITED FROM: disorganized yolk sac vascular plexus |
Nuclear receptor ligand-binding domain | 0.1933 | INHERITED FROM: absent fetal ductus arteriosus || abnormal conotruncus septation || persistent right dorsal aorta || altered susceptibility to atherosclerosis || abnormal stapedial artery morphology || abnormal myocardium layer morphology |
Nuclear receptor | 0.1933 | INHERITED FROM: absent fetal ductus arteriosus || abnormal conotruncus septation || persistent right dorsal aorta || altered susceptibility to atherosclerosis || abnormal stapedial artery morphology || abnormal myocardium layer morphology |
HMG-box | 0.2092 | INHERITED FROM: persistent truncus arteriosis |
MMP N-terminal domain | 0.2129 | INHERITED FROM: aortic aneurysm || aneurysm || retinal neovascularization || abnormal induced retinal neovascularization || decreased angiogenesis |
Myosin rod fragments | 0.2129 | INHERITED FROM: cardiac interstitial fibrosis || abnormal heart ventricle wall thickness || cardiac hypertrophy |
Cyclin | 0.2149 | INHERITED FROM: abnormal interventricular septum morphology |
Blood coagulation inhibitor (disintegrin) | 0.2149 | INHERITED FROM: double outlet right ventricle || abnormal heart ventricle outflow tract morphology || ventricular septal defect || enlarged mitral valve || abnormal heart left ventricle morphology || abnormal pulmonary valve morphology || abnormal heart left ventricle outflow tract morphology || abnormal heart right ventricle morphology || abnormal tricuspid valve morphology || abnormal atrioventricular valve morphology || abnormal heart valve morphology || abnormal heart atrium and ventricle connection || abnormal interventricular septum morphology || abnormal aortic valve morphology || abnormal heart right ventricle outflow tract morphology || abnormal semilunar valve morphology || abnormal mitral valve morphology |
Homeodomain | 0.2235 | INHERITED FROM: retroesophageal right subclavian artery || abnormal systemic artery morphology |
Integrin domains | 0.274 | INHERITED FROM: abnormal glomerular capillary morphology |
HLH, helix-loop-helix DNA-binding domain | 0.2813 | INHERITED FROM: common ventricle || abnormal cardiac epithelial to mesenchymal transition |
YWTD domain | 0.3012 | INHERITED FROM: abnormal descending aorta morphology || abnormal systemic artery morphology || abnormal aorta morphology |
Platelet-derived growth factor-like | 0.3012 | INHERITED FROM: enlarged heart || abnormal heart right ventricle size || increased heart right ventricle size |
Reprolysin-like | 0.3395 | INHERITED FROM: double outlet right ventricle || abnormal heart ventricle outflow tract morphology || enlarged mitral valve || abnormal heart and great vessel attachment || abnormal pulmonary valve morphology || abnormal heart right ventricle morphology || abnormal tricuspid valve morphology || abnormal heart valve morphology || enlarged tricuspid valve || abnormal heart atrium and ventricle connection || abnormal aortic valve morphology || abnormal mitral valve morphology |
Ras-binding domain, RBD | 0.3567 | INHERITED FROM: thick ventricular wall |
Histone deacetylase, HDAC | 0.3584 | INHERITED FROM: abnormal heart ventricle morphology || cardiac hypertrophy |
Erythroid transcription factor GATA-1 | 0.3584 | INHERITED FROM: abnormal myocardium compact layer morphology || thin myocardium || abnormal heart tube morphology || abnormal thoracic aorta morphology || ventricular septal defect || thin myocardium compact layer || abnormal cardiovascular development || abnormal heart ventricle wall thickness || abnormal fetal cardiomyocyte morphology || thin ventricular wall || abnormal systemic artery morphology || abnormal aorta morphology |
LIM domain | 0.3796 | INHERITED FROM: visceral vascular congestion || abnormal heart left ventricle morphology || dilated heart ventricle || vasculature congestion |
DEP domain | 0.4256 | INHERITED FROM: transposition of great arteries || double outlet right ventricle || persistent truncus arteriosis || abnormal truncus arteriosus septation || abnormal aorticopulmonary septum morphology || abnormal cardiac outflow tract development |
Phoshoinositide 3-kinase (PI3K) helical domain | 0.4256 | INHERITED FROM: abnormal heart size |
Eukaryotic proteases | 0.4347 | INHERITED FROM: choroidal neovascularization || abnormal choroid vasculature morphology || decreased susceptibility to induced choroidal neovascularization |
Fibronectin type III | 0.4566 | INHERITED FROM: absent organized vascular network || abnormal endocardium morphology |
Matrix metalloproteases, catalytic domain | 0.4574 | INHERITED FROM: aortic aneurysm || aneurysm || retinal neovascularization || abnormal induced retinal neovascularization || decreased angiogenesis |
DBL homology domain (DH-domain) | 0.4577 | INHERITED FROM: abnormal vascular endothelial cell migration |
Linker histone H1/H5 | 0.5065 | INHERITED FROM: absent vitelline blood vessels || abnormal pericardium morphology || abnormal vitelline vasculature morphology || enlarged pericardium |
Regulator of G-protein signaling, RGS | 0.5142 | INHERITED FROM: enlarged pericardium |
Hemopexin-like domain | 0.5148 | INHERITED FROM: aortic aneurysm || aneurysm || decreased angiogenesis |
Hypoxia-inducible factor Hif2a, C-terminal domain | 0.5148 | INHERITED FROM: abnormal heart weight || abnormal vascular regression |
SH3-domain | 0.6323 | INHERITED FROM: abnormal vascular endothelial cell development |
Rel/Dorsal transcription factors, DNA-binding domain | 0.6447 | INHERITED FROM: cardiac hypertrophy || abnormal myocardium layer morphology |
TB module/8-cys domain | 0.6447 | INHERITED FROM: abnormal aorta tunica media morphology || abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta morphology |
Interleukin 8-like chemokines | 0.6901 | INHERITED FROM: decreased susceptibility to atherosclerosis || atherosclerotic lesions || altered susceptibility to atherosclerosis |
NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.7776 | INHERITED FROM: ventricle myocardium hypoplasia || trabecula carnea hypoplasia || abnormal dorsal aorta morphology || abnormal placental labyrinth vasculature morphology || abnormal myocardium layer morphology |
SCOP term | FDR (all) | Annotation (direct or inherited) |
Transcriptional factor tubby, C-terminal domain | 0 | Direct |
SMAD MH1 domain | 0 | Direct |
Nitric oxide (NO) synthase oxygenase domain | 0 | Direct |
Interleukin-1 (IL-1) | 0 | Direct |
SMAD domain | 0 | Direct |
Retinoblastoma tumor suppressor domains | 0 | Direct |
SRF-like | 0 | Direct |
Cytochrome p450 reductase N-terminal domain-like | 0 | Direct |
Growth factor receptor domain | 0.00000000818 | Direct |
Extracellular domain of cell surface receptors | 0.0001616 | Direct |
L domain | 0.0003528 | Direct |
VWC domain | 0.0005273 | Direct |
DIX domain | 0.001222 | Inherited |
Integrin beta EGF-like domains | 0.001642 | Inherited |
T-box | 0.00193 | Inherited |
Spectrin repeat | 0.00313 | Inherited |
Notch domain | 0.004127 | Inherited |
NADPH-cytochrome p450 reductase-like | 0.004127 | Inherited |
NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.004127 | Inherited |
Integrin beta tail domain | 0.004962 | Inherited |
Pointed domain | 0.004962 | Inherited |
ZZ domain | 0.01242 | Inherited |
Inhibitor of apoptosis (IAP) repeat | 0.01418 | Inherited |
Kringle modules | 0.02257 | Inherited |
EGF-type module | 0.03015 | Inherited |
alpha-catenin/vinculin | 0.03845 | Inherited |
Transforming growth factor (TGF)-beta | 0.0741 | Inherited |
Fibroblast growth factors (FGF) | 0.1038 | Inherited |
Hairy Orange domain | 0.1201 | Inherited |
ets domain | 0.1266 | Inherited |
Protein kinases, catalytic subunit | 0.1322 | Inherited |
Forkhead DNA-binding domain | 0.1369 | Inherited |
Frizzled cysteine-rich domain | 0.1499 | Inherited |
Nuclear receptor ligand-binding domain | 0.1933 | Inherited |
Nuclear receptor | 0.1933 | Inherited |
HMG-box | 0.2092 | Inherited |
MMP N-terminal domain | 0.2129 | Inherited |
Myosin rod fragments | 0.2129 | Inherited |
Cyclin | 0.2149 | Inherited |
Blood coagulation inhibitor (disintegrin) | 0.2149 | Inherited |
Homeodomain | 0.2235 | Inherited |
Integrin domains | 0.274 | Inherited |
HLH, helix-loop-helix DNA-binding domain | 0.2813 | Inherited |
YWTD domain | 0.3012 | Inherited |
Platelet-derived growth factor-like | 0.3012 | Inherited |
Reprolysin-like | 0.3395 | Inherited |
Ras-binding domain, RBD | 0.3567 | Inherited |
Histone deacetylase, HDAC | 0.3584 | Inherited |
Erythroid transcription factor GATA-1 | 0.3584 | Inherited |
LIM domain | 0.3796 | Inherited |
DEP domain | 0.4256 | Inherited |
Phoshoinositide 3-kinase (PI3K) helical domain | 0.4256 | Inherited |
Eukaryotic proteases | 0.4347 | Inherited |
Fibronectin type III | 0.4566 | Inherited |
Matrix metalloproteases, catalytic domain | 0.4574 | Inherited |
DBL homology domain (DH-domain) | 0.4577 | Inherited |
Linker histone H1/H5 | 0.5065 | Inherited |
Regulator of G-protein signaling, RGS | 0.5142 | Inherited |
Hemopexin-like domain | 0.5148 | Inherited |
Hypoxia-inducible factor Hif2a, C-terminal domain | 0.5148 | Inherited |
SH3-domain | 0.6323 | Inherited |
Rel/Dorsal transcription factors, DNA-binding domain | 0.6447 | Inherited |
TB module/8-cys domain | 0.6447 | Inherited |
Interleukin 8-like chemokines | 0.6901 | Inherited |
NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.7776 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Supra-domain (including individual superfamily)
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | DIRECT |
90193,90193 90193 - Notch domain 90193 - Notch domain | 0 | DIRECT |
57440,57440 57440 - Kringle-like 57440 - Kringle-like | 0.00007289 | DIRECT |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.0002755 | DIRECT |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0002755 | DIRECT |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.001012 | INHERITED FROM: abnormal direction of heart looping || abnormal pericardial cavity morphology || abnormal cardiovascular development || abnormal blood vessel morphology || abnormal aorta morphology || abnormal cardinal vein morphology |
90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments | 0.001304 | INHERITED FROM: cardiac interstitial fibrosis || abnormal heart ventricle wall thickness || cardiac hypertrophy || enlarged heart |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0.004069 | INHERITED FROM: abnormal blood vessel morphology |
57603,57603 57603 - FnI-like domain 57603 - FnI-like domain | 0.004069 | INHERITED FROM: abnormal blood vessel morphology |
57196,69687 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0.004069 | INHERITED FROM: abnormal blood vessel morphology |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.004369 | INHERITED FROM: abnormal heart layer morphology || abnormal myocardium layer morphology |
57440,50494 57440 - Kringle-like 50494 - Trypsin-like serine proteases | 0.01034 | INHERITED FROM: choroidal neovascularization || abnormal choroid vasculature morphology || decreased susceptibility to induced choroidal neovascularization |
57603,82895 57603 - FnI-like domain 82895 - TSP-1 type 1 repeat | 0.01143 | INHERITED FROM: abnormal cardiovascular development |
57184,57603 57184 - Growth factor receptor domain 57603 - FnI-like domain | 0.01143 | INHERITED FROM: abnormal cardiovascular development |
63825,57196 63825 - YWTD domain 57196 - EGF/Laminin | 0.02069 | INHERITED FROM: abnormal descending aorta morphology || abnormal systemic artery morphology || abnormal aorta morphology |
49785,57184 49785 - Galactose-binding domain-like 57184 - Growth factor receptor domain | 0.02069 | INHERITED FROM: abnormal cardiovascular development || abnormal angiogenesis |
57184,63825 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.02707 | INHERITED FROM: abnormal systemic artery morphology || abnormal aorta morphology |
57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.03396 | INHERITED FROM: abnormal pericardial cavity morphology || hemopericardium || enlarged pericardium || pericardial effusion || abnormal pericardium morphology || abnormal heart atrium morphology |
47473,57850 47473 - EF-hand 57850 - RING/U-box | 0.03396 | INHERITED FROM: abnormal heart layer morphology || abnormal myocardium layer morphology |
49854,49854 49854 - Spermadhesin, CUB domain 49854 - Spermadhesin, CUB domain | 0.0566 | INHERITED FROM: ventricular septal defect || abnormal dorsal aorta morphology |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.08485 | INHERITED FROM: abnormal aorta elastic fiber morphology || abnormal blood vessel elastic tissue morphology || abnormal heart right ventricle size || abnormal aorta tunica media morphology || aneurysm || abnormal aorta morphology || enlarged heart |
47954,47954 47954 - Cyclin-like 47954 - Cyclin-like | 0.1018 | INHERITED FROM: abnormal heart septum morphology || thin ventricular wall || abnormal interventricular septum morphology |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.1019 | INHERITED FROM: increased heart right ventricle size || abnormal aorta elastic fiber morphology || abnormal heart right ventricle size || arteriovenous malformation || abnormal aorta tunica media morphology || abnormal angiogenesis || abnormal blood vessel morphology || abnormal aorta morphology || abnormal anterior cardinal vein morphology || abnormal cardinal vein morphology |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.1085 | INHERITED FROM: abnormal heart valve morphology || abnormal atrioventricular cushion morphology || abnormal atrioventricular valve morphology || pulmonary valve stenosis || heart right ventricle outflow tract stenosis || abnormal heart ventricle outflow tract morphology || abnormal cardiac epithelial to mesenchymal transition || abnormal heart atrium and ventricle connection || abnormal interventricular septum morphology || abnormal heart right ventricle outflow tract morphology || thick pulmonary valve || abnormal interventricular septum membranous part morphology || ventricular septal defect || abnormal fetal atrioventricular canal morphology || abnormal heart right ventricle morphology || increased heart ventricle size || perimembraneous ventricular septal defect || abnormal semilunar valve morphology || abnormal pulmonary valve morphology |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.1216 | INHERITED FROM: abnormal aorta elastic fiber morphology || abnormal heart ventricle morphology || abnormal heart right ventricle size || abnormal aorta tunica media morphology || cardiac hypertrophy || abnormal aorta morphology || atrial septal defect |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1515 | INHERITED FROM: atrioventricular septal defect || abnormal inferior vena cava morphology |
50044,55550 50044 - SH3-domain 55550 - SH2 domain | 0.1649 | INHERITED FROM: distended pericardium |
55486,57552 55486 - Metalloproteases ("zincins"), catalytic domain 57552 - Blood coagulation inhibitor (disintegrin) | 0.1917 | INHERITED FROM: abnormal heart valve morphology || abnormal heart left ventricle outflow tract morphology || abnormal aortic valve morphology || double outlet right ventricle || abnormal atrioventricular valve morphology || abnormal heart ventricle outflow tract morphology || abnormal heart atrium and ventricle connection || abnormal interventricular septum morphology || abnormal heart left ventricle morphology || abnormal heart right ventricle outflow tract morphology || abnormal mitral valve morphology || ventricular septal defect || abnormal heart right ventricle morphology || abnormal tricuspid valve morphology || enlarged mitral valve || abnormal semilunar valve morphology || abnormal pulmonary valve morphology |
57424,57424 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0.2069 | INHERITED FROM: abnormal systemic artery morphology || aneurysm || abnormal aorta morphology |
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain | 0.2069 | INHERITED FROM: retinal neovascularization || decreased angiogenesis || aneurysm || aortic aneurysm || abnormal induced retinal neovascularization |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.2577 | INHERITED FROM: abnormal fetal cardiomyocyte morphology || abnormal myocardium layer morphology || abnormal heart shape |
57716,48508 57716 - Glucocorticoid receptor-like (DNA-binding domain) 48508 - Nuclear receptor ligand-binding domain | 0.2654 | INHERITED FROM: abnormal truncus arteriosus septation || abnormal aortic valve morphology || persistent right dorsal aorta || abnormal pharyngeal arch artery morphology || abnormal conotruncus septation || absent fetal ductus arteriosus || abnormal stapedial artery morphology || persistent truncus arteriosis || right aortic arch || abnormal myocardium layer morphology |
55550,50044 55550 - SH2 domain 50044 - SH3-domain | 0.294 | INHERITED FROM: abnormal blood vessel morphology || abnormal vascular endothelial cell development |
49265,49265 49265 - Fibronectin type III 49265 - Fibronectin type III | 0.3163 | INHERITED FROM: absent organized vascular network |
48065,50729 48065 - DBL homology domain (DH-domain) 50729 - PH domain-like | 0.3551 | INHERITED FROM: abnormal vascular endothelial cell migration |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.4178 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta tunica media morphology || abnormal aorta morphology |
49562,48371 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48371 - ARM repeat | 0.4178 | INHERITED FROM: abnormal heart size |
57424,57184 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.4178 | INHERITED FROM: abnormal systemic artery morphology || abnormal aorta morphology |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.4178 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta tunica media morphology || abnormal aorta morphology |
47220,47220 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like | 0.498 | INHERITED FROM: dilated heart || dilated cardiomyopathy |
48726,49265 48726 - Immunoglobulin 49265 - Fibronectin type III | 0.5053 | INHERITED FROM: absent organized vascular network || abnormal heart left atrium morphology |
47459,55785 47459 - HLH, helix-loop-helix DNA-binding domain 55785 - PYP-like sensor domain (PAS domain) | 0.5066 | INHERITED FROM: abnormal vascular regression |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0.6372 | INHERITED FROM: cardiac hypertrophy || abnormal myocardium layer morphology |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.7071 | INHERITED FROM: abnormal heart left ventricle morphology || abnormal heart left ventricle size |
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | Direct |
90193,90193 90193 - Notch domain 90193 - Notch domain | 0 | Direct |
57440,57440 57440 - Kringle-like 57440 - Kringle-like | 0.00007289 | Direct |
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain | 0.0002755 | Direct |
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0002755 | Direct |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.001012 | Inherited |
90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments | 0.001304 | Inherited |
53300,69179 53300 - vWA-like 69179 - Integrin domains | 0.004069 | Inherited |
57603,57603 57603 - FnI-like domain 57603 - FnI-like domain | 0.004069 | Inherited |
57196,69687 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0.004069 | Inherited |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.004369 | Inherited |
57440,50494 57440 - Kringle-like 50494 - Trypsin-like serine proteases | 0.01034 | Inherited |
57603,82895 57603 - FnI-like domain 82895 - TSP-1 type 1 repeat | 0.01143 | Inherited |
57184,57603 57184 - Growth factor receptor domain 57603 - FnI-like domain | 0.01143 | Inherited |
63825,57196 63825 - YWTD domain 57196 - EGF/Laminin | 0.02069 | Inherited |
49785,57184 49785 - Galactose-binding domain-like 57184 - Growth factor receptor domain | 0.02069 | Inherited |
57184,63825 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.02707 | Inherited |
57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.03396 | Inherited |
47473,57850 47473 - EF-hand 57850 - RING/U-box | 0.03396 | Inherited |
49854,49854 49854 - Spermadhesin, CUB domain 49854 - Spermadhesin, CUB domain | 0.0566 | Inherited |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.08485 | Inherited |
47954,47954 47954 - Cyclin-like 47954 - Cyclin-like | 0.1018 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.1019 | Inherited |
47459,158457 47459 - HLH, helix-loop-helix DNA-binding domain 158457 - Orange domain-like | 0.1085 | Inherited |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.1216 | Inherited |
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1515 | Inherited |
50044,55550 50044 - SH3-domain 55550 - SH2 domain | 0.1649 | Inherited |
55486,57552 55486 - Metalloproteases ("zincins"), catalytic domain 57552 - Blood coagulation inhibitor (disintegrin) | 0.1917 | Inherited |
57424,57424 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0.2069 | Inherited |
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain | 0.2069 | Inherited |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.2577 | Inherited |
57716,48508 57716 - Glucocorticoid receptor-like (DNA-binding domain) 48508 - Nuclear receptor ligand-binding domain | 0.2654 | Inherited |
55550,50044 55550 - SH2 domain 50044 - SH3-domain | 0.294 | Inherited |
49265,49265 49265 - Fibronectin type III 49265 - Fibronectin type III | 0.3163 | Inherited |
48065,50729 48065 - DBL homology domain (DH-domain) 50729 - PH domain-like | 0.3551 | Inherited |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.4178 | Inherited |
49562,48371 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48371 - ARM repeat | 0.4178 | Inherited |
57424,57184 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.4178 | Inherited |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.4178 | Inherited |
47220,47220 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like | 0.498 | Inherited |
48726,49265 48726 - Immunoglobulin 49265 - Fibronectin type III | 0.5053 | Inherited |
47459,55785 47459 - HLH, helix-loop-helix DNA-binding domain 55785 - PYP-like sensor domain (PAS domain) | 0.5066 | Inherited |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0.6372 | Inherited |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.7071 | Inherited |
(show details)
Supra-domains annotated to this MP term (Not in SPMP)
Highlighted in gray are those with FDR>0.001
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
57196,90193,90193 57196 - EGF/Laminin 90193 - Notch domain 90193 - Notch domain | 0 | DIRECT |
49503,49503,49503 49503 - Cupredoxins 49503 - Cupredoxins 49503 - Cupredoxins | 0 | DIRECT |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | DIRECT |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0002755 | DIRECT |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.0004271 | DIRECT |
57603,57603,57603 57603 - FnI-like domain 57603 - FnI-like domain 57603 - FnI-like domain | 0.000988 | DIRECT |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.002474 | INHERITED FROM: abnormal myocardium layer morphology |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.003445 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta tunica media morphology || abnormal blood vessel morphology || abnormal aorta morphology |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.003445 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta tunica media morphology || abnormal blood vessel morphology || abnormal aorta morphology |
57440,57440,57440 57440 - Kringle-like 57440 - Kringle-like 57440 - Kringle-like | 0.003445 | INHERITED FROM: choroidal neovascularization || abnormal choroid vasculature morphology || decreased susceptibility to induced choroidal neovascularization || decreased angiogenesis || abnormal angiogenesis || abnormal blood vessel morphology |
57440,57440,50494 57440 - Kringle-like 57440 - Kringle-like 50494 - Trypsin-like serine proteases | 0.003445 | INHERITED FROM: abnormal blood vessel morphology |
57196,57196,69687 57196 - EGF/Laminin 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0.004069 | INHERITED FROM: abnormal blood vessel morphology |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.004069 | INHERITED FROM: abnormal heart septum morphology || abnormal systemic artery morphology || abnormal heart ventricle morphology || abnormal interventricular septum morphology || abnormal blood vessel morphology || abnormal aorta morphology |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.01091 | INHERITED FROM: abnormal direction of heart looping || abnormal blood vessel morphology |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.012 | INHERITED FROM: abnormal systemic artery morphology || abnormal aorta morphology |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.012 | INHERITED FROM: abnormal systemic artery morphology || abnormal aorta morphology |
57924,57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.03396 | INHERITED FROM: abnormal pericardial cavity morphology || hemopericardium || enlarged pericardium || pericardial effusion || abnormal pericardium morphology || abnormal heart atrium morphology |
47473,47473,57850 47473 - EF-hand 47473 - EF-hand 57850 - RING/U-box | 0.03396 | INHERITED FROM: abnormal heart layer morphology || abnormal myocardium layer morphology |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04886 | INHERITED FROM: abnormal vein morphology || abnormal atrioventricular septum morphology || atrioventricular septal defect || abnormal systemic artery morphology || abnormal inferior vena cava morphology || abnormal vena cava morphology || abnormal aorta morphology |
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain | 0.06692 | INHERITED FROM: abnormal systemic artery morphology || abnormal aorta morphology |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2069 | INHERITED FROM: increased heart right ventricle size || abnormal pericardial cavity morphology || abnormal heart right ventricle size || abnormal aorta tunica media morphology || aneurysm || abnormal blood vessel morphology || abnormal aorta morphology |
57424,57424,57424 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0.2069 | INHERITED FROM: abnormal systemic artery morphology || aneurysm || abnormal aorta morphology |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.246 | INHERITED FROM: abnormal direction of heart looping || abnormal myocardial trabeculae morphology || arteriovenous malformation || vascular stenosis || pericardial effusion || abnormal blood vessel morphology || abnormal aorta morphology || aorta stenosis |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.3501 | INHERITED FROM: abnormal aorta elastic tissue morphology || abnormal aorta elastic fiber morphology || abnormal blood vessel elastic tissue morphology || abnormal artery morphology || abnormal aorta tunica media morphology || abnormal aorta wall morphology || cardiac hypertrophy || abnormal blood vessel morphology || abnormal aorta morphology || abnormal heart morphology || increased aorta wall thickness |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.3501 | INHERITED FROM: abnormal pericardial cavity morphology || abnormal artery morphology || decreased angiogenesis || abnormal angiogenesis || abnormal blood vessel morphology || abnormal aorta morphology |
48726,49265,49265 48726 - Immunoglobulin 49265 - Fibronectin type III 49265 - Fibronectin type III | 0.3501 | INHERITED FROM: abnormal myocardial trabeculae morphology || absent organized vascular network |
48726,48726,49265 48726 - Immunoglobulin 48726 - Immunoglobulin 49265 - Fibronectin type III | 0.3772 | INHERITED FROM: heart left ventricle hypertrophy |
49562,48371,56112 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48371 - ARM repeat 56112 - Protein kinase-like (PK-like) | 0.4178 | INHERITED FROM: abnormal heart size |
47220,47220,47220 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like | 0.498 | INHERITED FROM: dilated heart || dilated cardiomyopathy |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0.498 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta morphology |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.498 | INHERITED FROM: abnormal systemic artery morphology || abnormal artery morphology || abnormal aorta morphology |
57716,57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6083 | INHERITED FROM: dilated heart left ventricle || dilated heart ventricle || visceral vascular congestion || vasculature congestion || abnormal heart left ventricle morphology |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
57196,90193,90193 57196 - EGF/Laminin 90193 - Notch domain 90193 - Notch domain | 0 | Direct |
49503,49503,49503 49503 - Cupredoxins 49503 - Cupredoxins 49503 - Cupredoxins | 0 | Direct |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | Direct |
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like | 0.0002755 | Direct |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.0004271 | Direct |
57603,57603,57603 57603 - FnI-like domain 57603 - FnI-like domain 57603 - FnI-like domain | 0.000988 | Direct |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.002474 | Inherited |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.003445 | Inherited |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.003445 | Inherited |
57440,57440,57440 57440 - Kringle-like 57440 - Kringle-like 57440 - Kringle-like | 0.003445 | Inherited |
57440,57440,50494 57440 - Kringle-like 57440 - Kringle-like 50494 - Trypsin-like serine proteases | 0.003445 | Inherited |
57196,57196,69687 57196 - EGF/Laminin 57196 - EGF/Laminin 69687 - Integrin beta tail domain | 0.004069 | Inherited |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.004069 | Inherited |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.01091 | Inherited |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0.012 | Inherited |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0.012 | Inherited |
57924,57924,57924 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat 57924 - Inhibitor of apoptosis (IAP) repeat | 0.03396 | Inherited |
47473,47473,57850 47473 - EF-hand 47473 - EF-hand 57850 - RING/U-box | 0.03396 | Inherited |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04886 | Inherited |
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain | 0.06692 | Inherited |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2069 | Inherited |
57424,57424,57424 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57424 - LDL receptor-like module | 0.2069 | Inherited |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.246 | Inherited |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.3501 | Inherited |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.3501 | Inherited |
48726,49265,49265 48726 - Immunoglobulin 49265 - Fibronectin type III 49265 - Fibronectin type III | 0.3501 | Inherited |
48726,48726,49265 48726 - Immunoglobulin 48726 - Immunoglobulin 49265 - Fibronectin type III | 0.3772 | Inherited |
49562,48371,56112 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48371 - ARM repeat 56112 - Protein kinase-like (PK-like) | 0.4178 | Inherited |
47220,47220,47220 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like 47220 - alpha-catenin/vinculin-like | 0.498 | Inherited |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0.498 | Inherited |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.498 | Inherited |
57716,57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.6083 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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