Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| label | string | 0..1 | A name given to the resource. | RDFS:label | Entity |
| description | string | 0..1 | Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. | DC:description | Entity |
Instances
| ID | label | description |
|---|---|---|
| (Activation Assay) |
Activation Assay |
|
| (ATPase assay) |
ATPase assay |
|
| (Binding assay) |
Binding assay |
|
| (cellular localization) |
cellular localization |
|
| (Elk1 pohsphorylation via luciferase assay) |
Elk1 pohsphorylation via luciferase assay |
|
| (iodide efflux) |
iodide efflux |
|
| (motility assay) |
motility assay |
|
| (neurite outgrowth) |
neurite outgrowth |
|
| (Yeast complementation assay) |
Yeast complementation assay |
|
| (African/African American) |
African/African American |
|
| (Latino) |
Latino |
|
| (Ashkenazi Jewish) |
Ashkenazi Jewish |
|
| (East Asian) |
East Asian |
|
| (Finnish) |
Finnish |
|
| (Non-Finnish European) |
Non-Finnish European |
|
| (Other) |
Other |
|
| (South Asian) |
South Asian |
|
| (genetic disease) |
genetic disease |
|
| (African-American) |
African-American |
|
| (European-American) |
European-American |
|
| (HNRNPU) |
HNRNPU |
|
| (BRCA2) |
BRCA2 |
|
| (TTN) |
TTN |
|
| (PTPN11) |
PTPN11 |
|
| (DNAH5) |
DNAH5 |
|
| (HRAS) |
HRAS |
|
| (KRAS) |
KRAS |
|
| (MYH7) |
MYH7 |
|
| (DES) |
DES |
|
| (GRIN2A) |
GRIN2A |
|
| (TNNT2) |
TNNT2 |
|
| (SPG7) |
SPG7 |
|
| (BRAF) |
BRAF |
|
| (MEK) |
MEK |
|
| (ERK) |
ERK |
|
| (SLC26A4) |
SLC26A4 |
|
| (RYR1) |
RYR1 |
|
| (ENPP1) |
ENPP1 |
|
| (EGFR) |
EGFR |
|
| (GLA) |
GLA |
|
| (MUTYH) |
MUTYH |
|
| (EDA) |
EDA |
|
| (RAF1) |
RAF1 |
|
| (GIPC3) |
GIPC3 |
|
| (TTP1) |
TTP1 |
|
| (OPA1) |
OPA1 |
|
| (PHOX2B) |
PHOX2B |
|
| (TNNI3) |
TNNI3 |
|
| (OTC) |
OTC |
|
| (BRCA1) |
BRCA1 |
|
| (FLCN) |
FLCN |
|
| (MAP2K1) |
MAP2K1 |
|
| (USH2A) |
USH2A |
|
| (MYBPC3) |
MYBPC3 |
|
| (ENG) |
ENG |
|
| (FLNC) |
FLNC |
|
| (BLM) |
BLM |
|
| (GJB2) |
GJB2 |
|
| (DNAI2) |
DNAI2 |
|
| (FBN1) |
FBN1 |
|
| (NDUFA1) |
NDUFA1 |
|
| (HSD17B4) |
HSD17B4 |
|
| (KMT2A) |
KMT2A |
|
| (APC) |
APC |
|
| (SPRED1) |
SPRED1 |
|
| (LDLR) |
LDLR |
|
| (ACTN2) |
ACTN2 |
|
| (LOXHD1) |
LOXHD1 |
|
| (CFTR) |
CFTR |
|
| (NEB) |
NEB |
|
| (TMIE) |
TMIE |
|
| (SOS1) |
SOS1 |
|
| (CDH23) |
CDH23 |
|
| (WHRN) |
WHRN |
|
| (COL2A1) |
COL2A1 |
|
| (COMP) |
COMP |
|
| (OAT) |
OAT |
|
| (TMC1) |
TMC1 |
|
| (KCNQ1) |
KCNQ1 |
|
| (DSC2) |
DSC2 |
|
| (in cis) |
in cis |
|
| (in trans) |
in trans |
|
| (hemizygous) |
hemizygous |
|
| (heterozygous) |
heterozygous |
|
| (homozygous) |
homozygous |
|
| (unspecified zygosity) |
unspecified zygosity |
|
| (Codominant inheritance) |
Codominant inheritance |
|
| (homoplasmic) |
homoplasmic |
|
| (heteroplasmic) |
heteroplasmic |
|
| (maternally inherited) |
maternally inherited |
|
| (paternally inherited) |
paternally inherited |
|
| (de novo) |
de novo |
|
| (Unknown inheritance) |
Unknown inheritance |
|
| (Somatic) |
Somatic |
|
| (Parentally inherited) |
Parentally inherited |
|
| (Unknown inheritance) |
Unknown inheritance |
|
| (Mitochondrial inheritance (primarily or exclusively heteroplasmic)) |
Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
|
| (Mitochondrial inheritance (primarily or exclusively homoplasmic)) |
Mitochondrial inheritance (primarily or exclusively homoplasmic) |
|
| (Semidominant inheritance) |
Semidominant inheritance |
|
| (X-linked inheritance (primarily recessive with milder female expression)) |
X-linked inheritance (primarily recessive with milder female expression) |
|
| (Autosomal dominant inheritance (with genetic anticipation)) |
Autosomal dominant inheritance (with genetic anticipation) |
|
| (Autosomal recessive inheritance (with genetic anticipation)) |
Autosomal recessive inheritance (with genetic anticipation) |
|
| (Autosomal dominant inheritance) |
Autosomal dominant inheritance |
|
| (Autosomal recessive inheritance) |
Autosomal recessive inheritance |
|
| (macrocephaly) |
macrocephaly |
|
| (café au lait macules (CALMs)) |
café au lait macules (CALMs) |
|
| (axillary freckling) |
axillary freckling |
|
| (X-linked inheritance) |
X-linked inheritance |
|
| (X-linked inheritance (recessive)) |
X-linked inheritance (recessive) |
|
| (X-linked inheritance (dominant)) |
X-linked inheritance (dominant) |
|
| (Multifactorial inheritance) |
Multifactorial inheritance |
|
| (Mitochondrial inheritance) |
Mitochondrial inheritance |
|
| (Somatic mutation) |
Somatic mutation |
|
| (Y-linked inheritance) |
Y-linked inheritance |
|
| (Autosomal dominant inheritance (sex-limited)) |
Autosomal dominant inheritance (sex-limited) |
|
| (Genetic anticipation) |
Genetic anticipation |
|
| (Sporadic) |
Sporadic |
|
| (Incomplete) |
Incomplete |
|
| (Complete) |
Complete |
|
| (High) |
High |
|
| (Oligogenic) |
Oligogenic |
|
| (Abnormal Glucose Homeostasis) |
Abnormal Glucose Homeostasis |
|
| (Autosomal dominant inheritance (with paternal imprinting)) |
Autosomal dominant inheritance (with paternal imprinting) |
|
| (Autosomal dominant inheritance (with maternal imprinting)) |
Autosomal dominant inheritance (with maternal imprinting) |
|
| (Absent vas deferens) |
Absent vas deferens |
|
| (Autosomal dominant inheritance (primarily or exclusively de novo)) |
Autosomal dominant inheritance (primarily or exclusively de novo) |
|
| (Autosomal recessive inheritance (sex-limited)) |
Autosomal recessive inheritance (sex-limited) |
|
| (Absent/shortened dynein arms) |
Absent/shortened dynein arms |
|
| (African Caribbeans in Barbados) |
African Caribbeans in Barbados |
|
| (African) |
African |
|
| (Ad Mixed American) |
Ad Mixed American |
|
| (Americans of African Ancestry in SW USA) |
Americans of African Ancestry in SW USA |
|
| (Bengali from Bangladesh) |
Bengali from Bangladesh |
|
| (Chinese Dai in Xishuangbanna, China) |
Chinese Dai in Xishuangbanna, China |
|
| (Utah Residents (CEPH) with Northern and Western European Ancestry) |
Utah Residents (CEPH) with Northern and Western European Ancestry |
|
| (Han Chinese in Bejing, China) |
Han Chinese in Bejing, China |
|
| (Southern Han Chinese) |
Southern Han Chinese |
|
| (Colombians from Medellin, Colombia) |
Colombians from Medellin, Colombia |
|
| (East Asian) |
East Asian |
|
| (Esan in Nigeria) |
Esan in Nigeria |
|
| (European) |
European |
|
| (Finnish in Finland) |
Finnish in Finland |
|
| (British in England and Scotland) |
British in England and Scotland |
|
| (Gujarati Indian from Houston, Texas) |
Gujarati Indian from Houston, Texas |
|
| (Gambian in Western Divisions in the Gambia) |
Gambian in Western Divisions in the Gambia |
|
| (Iberian Population in Spain) |
Iberian Population in Spain |
|
| (Indian Telugu from the UK) |
Indian Telugu from the UK |
|
| (Japanese in Tokyo, Japan) |
Japanese in Tokyo, Japan |
|
| (Kinh in Ho Chi Minh City, Vietnam) |
Kinh in Ho Chi Minh City, Vietnam |
|
| (Luhya in Webuye, Kenya) |
Luhya in Webuye, Kenya |
|
| (Mende in Sierra Leone) |
Mende in Sierra Leone |
|
| (Mexican Ancestry from Los Angeles USA) |
Mexican Ancestry from Los Angeles USA |
|
| (Peruvians from Lima, Peru) |
Peruvians from Lima, Peru |
|
| (Punjabi from Lahore, Pakistan) |
Punjabi from Lahore, Pakistan |
|
| (Puerto Ricans from Puerto Rico) |
Puerto Ricans from Puerto Rico |
|
| (South Asian) |
South Asian |
|
| (Sri Lankan Tamil from the UK) |
Sri Lankan Tamil from the UK |
|
| (Toscani in Italia) |
Toscani in Italia |
|
| (Yoruba in Ibadan, Nigeria) |
Yoruba in Ibadan, Nigeria |
|
| (Likely Pathogenic) |
Likely Pathogenic |
|
| (Uncertain Significance) |
Uncertain Significance |
|
| (Likely Benign) |
Likely Benign |
|
| (Pathogenic) |
Pathogenic |
|
| (Benign) |
Benign |
|
| (hereditary breast ovarian cancer) |
hereditary breast ovarian cancer |
|
| (Breast Cancer) |
Breast Cancer |
|
| (Hypercholesterolemia, Familial) |
Hypercholesterolemia, Familial |
|
| (myofibrillar myopathy 1) |
myofibrillar myopathy 1 |
|
| (noonan syndrome 3) |
noonan syndrome 3 |
|
| (Breast-Ovarian Cancer, Familial, Susceptibility To, 2) |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
| (Myopathy, Distal, type 4) |
Myopathy, Distal, type 4 |
|
| (Birt-Hogg-Dube Syndrome) |
Birt-Hogg-Dube Syndrome |
|
| (cardiofaciocutaneous syndrome) |
cardiofaciocutaneous syndrome |
|
| (hereditary breast and ovarian cancer syndrome) |
hereditary breast and ovarian cancer syndrome |
|
| (cardiomyopathy) |
cardiomyopathy |
|
| (neuronal ceroid lipofuscinosis) |
neuronal ceroid lipofuscinosis |
|
| (hypertrophic cardiomyopathy) |
hypertrophic cardiomyopathy |
|
| (dilated cardiomyopathy) |
dilated cardiomyopathy |
|
| (Primary ciliary dyskenisia) |
Primary ciliary dyskenisia |
|
| (arrhythmogenic right ventricular cardiomyopathy) |
arrhythmogenic right ventricular cardiomyopathy |
|
| (Mitochondrial complex 1 deficiency) |
Mitochondrial complex 1 deficiency |
|
| (Perrault Syndrome) |
Perrault Syndrome |
|
| (costello syndrome) |
costello syndrome |
|
| (Wiedemann-Steiner syndrome) |
Wiedemann-Steiner syndrome |
|
| (Fabry disease) |
Fabry disease |
|
| (Primary bone dysplasia) |
Primary bone dysplasia |
|
| (Gyrate atrophy of choroid and retina) |
Gyrate atrophy of choroid and retina |
|
| (Malignant hyperthermia) |
Malignant hyperthermia |
|
| (Marfan Syndrome) |
Marfan Syndrome |
|
| (Cystic Fibrosis) |
Cystic Fibrosis |
|
| (noonan syndrome) |
noonan syndrome |
|
| (Ornithine carbamoyltransferase deficiency) |
Ornithine carbamoyltransferase deficiency |
|
| (Pendred syndrome) |
Pendred syndrome |
|
| (Familial Adenomatous Polyposis) |
Familial Adenomatous Polyposis |
|
| (pseudoachondroplasia) |
pseudoachondroplasia |
|
| (hereditary hemorrhagic telangiectasia) |
hereditary hemorrhagic telangiectasia |
|
| (Retinitis Pigmentosa) |
Retinitis Pigmentosa |
|
| (Fanconi Anemia) |
Fanconi Anemia |
|
| (nonsyndromic deafness) |
nonsyndromic deafness |
|
| (Usher syndrome) |
Usher syndrome |
|
| (Noonan syndrome and noonan-related syndrom) |
Noonan syndrome and noonan-related syndrom |
|
| (does not overlap region) |
does not overlap region |
|
| (overlaps region) |
overlaps region |
|
| (fixed) |
fixed |
|
| (extensible) |
extensible |
|
| (external) |
external |
|
| (Combined) |
Combined |
|
| (Overall) |
Overall |
|
| (high) |
high |
|
| (complete) |
complete |
|
| (maternal confirmation) |
maternal confirmation |
|
| (paternal confirmation) |
paternal confirmation |
|
| (maternal and paternal confirmation) |
maternal and paternal confirmation |
|
| (no parental confirmation) |
no parental confirmation |
|
| (affected) |
affected |
|
| (unaffected) |
unaffected |
|
| (status unknown) |
status unknown |
|
| (present) |
present |
|
| (absent) |
absent |
|
| (unknown) |
unknown |
|
| (assessor) |
assessor |
|
| (approver) |
approver |
|
| (curator) |
curator |
|
| (publisher) |
publisher |
|
| (Pathogenic Moderate) |
Pathogenic Moderate |
|
| (None) |
None |
|
| (Pathogenic Very Strong) |
Pathogenic Very Strong |
|
| (Met) |
Met |
|
| (Not Met) |
Not Met |
|
| (1000 Genomes ascertainment method) |
1000 Genomes ascertainment method |
|
| (High) |
High |
|
| (Low) |
Low |
|
| (common) |
common |
|
| (established) |
established |
|
| (primary) |
primary |
|
| (suggested) |
suggested |
|
| (unknown) |
unknown |
|
| (low) |
low |
|
| (functional region) |
functional region |
|
| (mutational hotspot) |
mutational hotspot |
|
| (missense effect) |
missense effect |
|
| (splicing prediction) |
splicing prediction |
|
| (Benign Stand Alone) |
Benign Stand Alone |
|
| (Benign Moderate) |
Benign Moderate |
|
| (Benign Supporting) |
Benign Supporting |
|
| (Benign Strong) |
Benign Strong |
|
| (Pathogenic Supporting) |
Pathogenic Supporting |
|
| (Pathogenic Strong) |
Pathogenic Strong |
|
| (interpreter) |
interpreter |
|
| (ExAC ascertainment method) |
ExAC ascertainment method |
|
| (ESP ascertainment method) |
ESP ascertainment method |
|
| (gnomAD ascertainment method) |
gnomAD ascertainment method |
|
| (deletion) |
deletion |
|
| (interior intron) |
interior intron |
|
| (translocation) |
translocation |
|
| (three prime UTR) |
three prime UTR |
|
| (five prime UTR) |
five prime UTR |
|
| (conserved region) |
conserved region |
|
| (not conserved region) |
not conserved region |
|
| (pseudogenic exon) |
pseudogenic exon |
|
| (repeat region ) |
repeat region |
|
| (insertion) |
insertion |
|
| (copy number variation) |
copy number variation |
|
| (splicing variant) |
splicing variant |
|
| (stop lost) |
stop lost |
|
| (missense variant) |
missense variant |
|
| (non conservative missense variant) |
non conservative missense variant |
|
| (stop gained) |
stop gained |
|
| (frameshift variant) |
frameshift variant |
|
| (splice-site variant) |
splice-site variant |
|
| (synonymous variant) |
synonymous variant |
|
| (conservative Inframe Insertion) |
conservative Inframe Insertion |
|
| (disruptive inframe insertion) |
disruptive inframe insertion |
|
| (conservative Inframe Deletion) |
conservative Inframe Deletion |
|
| (disruptive inframe deletion) |
disruptive inframe deletion |
|
| (frameshift elongation) |
frameshift elongation |
|
| (MNV) |
MNV |
|
| (start lost) |
start lost |
|
| (loss of function variant) |
loss of function variant |
|
| (null mutation) |
null mutation |
|
| (function not lost) |
function not lost |
|
| (function unknown) |
function unknown |
|
| (no sequence alteration) |
no sequence alteration |
|
| (substitution) |
substitution |
|
| (indel) |
indel |
|
| (inversion) |
inversion |
|
| (Family #001) |
Family #001 |
|
| (Family #002) |
Family #002 |
|
| (Family #003) |
Family #003 |
|
| (Family #004) |
Family #004 |
|
| (Family #005) |
Family #005 |
|
| (Family #006) |
Family #006 |
|
| (Family #007) |
Family #007 |
|
| (Family #008) |
Family #008 |
|
| (Family #009) |
Family #009 |
|
| (Family #010) |
Family #010 |
|
| (Family #011) |
Family #011 |
|
| (individual #001) |
individual #001 |
|
| (individual #002) |
individual #002 |
|
| (individual #003) |
individual #003 |
|
| (individual #004) |
individual #004 |
|
| (individual #005) |
individual #005 |
|
| (individual #006) |
individual #006 |
|
| (individual #007) |
individual #007 |
|
| (individual #008) |
individual #008 |
|
| (individual #009) |
individual #009 |
|
| (individual #010) |
individual #010 |
|
| (individual #011) |
individual #011 |
|
| (individual #012) |
individual #012 |
|
| (individual #013) |
individual #013 |
|
| (individual #014) |
individual #014 |
|
| (individual #015) |
individual #015 |
|
| (individual #016) |
individual #016 |
|
| (individual #017) |
individual #017 |
|
| (individual #018) |
individual #018 |
|
| (individual #019) |
individual #019 |
|
| (individual #020) |
individual #020 |
|
| (individual #021) |
individual #021 |
|
| (individual #022) |
individual #022 |
|
| (individual #023) |
individual #023 |
|
| (individual #024) |
individual #024 |
|
| (individual #025) |
individual #025 |
|
| (individual #026) |
individual #026 |
|
| (individual #027) |
individual #027 |
|
| (individual #028) |
individual #028 |
|
| (individual #029) |
individual #029 |
|
| (individual #030) |
individual #030 |
|
| (LMM Hearing Loss) |
LMM Hearing Loss |
|
| (GENIUS T2D Cases) |
GENIUS T2D Cases |
|
| (GENIUS T2D Controls) |
GENIUS T2D Controls |
|
| (NM_005228.3) |
NM_005228.3 |
|
| (NP_005219.2) |
NP_005219.2 |
|
| (NM_004333.4) |
NM_004333.4 |
|
| (NM_000169.2) |
NM_000169.2 |
|
| (NP_001360.1) |
NP_001360.1 |
|
| (NP_056375.2) |
NP_056375.2 |
|
| (NP_003915.2) |
NP_003915.2 |
|
| (NM_001271208.1) |
NM_001271208.1 |
|
| (NM_133378.4) |
NM_133378.4 |
|
| (NM_147196.2) |
NM_147196.2 |
|
| (NM_000257.2) |
NM_000257.2 |
|
| (ENST00000566221.5) |
ENST00000566221.5 |
|
| (NM_000363.4) |
NM_000363.4 |
|
| (NM_000059.3) |
NM_000059.3 |
|
| (NM_138691.2) |
NM_138691.2 |
|
| (NM_002880.3) |
NM_002880.3 |
|
| (ACMG ISV 2015 combining/scoring algorithm) |
ACMG ISV 2015 combining/scoring algorithm |
|
| (Benign) |
Benign |
|
| (C0 (benign)) |
C0 (benign) |
|
| (Damaging) |
Damaging |
|
| (Deleterious) |
Deleterious |
|
| (Disease-causing) |
Disease-causing |
|
| (Good (benign)) |
Good (benign) |
|
| (Medium functional impact) |
Medium functional impact |
|
| (No impact) |
No impact |
|
| (Possibly damaging) |
Possibly damaging |
|
| (Probably damaging) |
Probably damaging |
|
| (Tolerated) |
Tolerated |
|
| (1) |
1 |
|
| (2) |
2 |
|
| (3) |
3 |
|
| (4) |
4 |
|
| (5) |
5 |
|
| (6) |
6 |
|
| (7) |
7 |
|
| (8) |
8 |
|
| (9) |
9 |
|
| (10) |
10 |
|
| (11) |
11 |
|
| (12) |
12 |
|
| (13) |
13 |
|
| (14) |
14 |
|
| (15) |
15 |
|
| (16) |
16 |
|
| (17) |
17 |
|
| (18) |
18 |
|
| (19) |
19 |
|
| (20) |
20 |
|
| (21) |
21 |
|
| (22) |
22 |
|
| (X) |
X |
|
| (Y) |
Y |
|
| (M) |
M |
|
| (NCBI36) |
NCBI36 |
hg18 |
| (GRCh37) |
GRCh37 |
hg19 |
| (GRCh38) |
GRCh38 |
hg38 |