Entity

BFO:0000001

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

CGEX:AFAMID076

(Activation Assay)

Activation Assay

CGEX:AFAMID077

(ATPase assay)

ATPase assay

CGEX:AFAMID078

(Binding assay)

Binding assay

CGEX:AFAMID079

(cellular localization)

cellular localization

CGEX:AFAMID080

(Elk1 pohsphorylation via luciferase assay)

Elk1 pohsphorylation via luciferase assay

CGEX:AFAMID081

(iodide efflux)

iodide efflux

CGEX:AFAMID082

(motility assay)

motility assay

CGEX:AFAMID083

(neurite outgrowth)

neurite outgrowth

CGEX:AFAMID084

(Yeast complementation assay)

Yeast complementation assay

GNOMAD:afr

(African/African American)

African/African American

GNOMAD:amr

(Latino)

Latino

GNOMAD:asj

(Ashkenazi Jewish)

Ashkenazi Jewish

GNOMAD:eas

(East Asian)

East Asian

GNOMAD:fin

(Finnish)

Finnish

GNOMAD:nfe

(Non-Finnish European)

Non-Finnish European

GNOMAD:oth

(Other)

Other

GNOMAD:sas

(South Asian)

South Asian

DOID:630

(genetic disease)

genetic disease

EVS:AA

(African-American)

African-American

EVS:EA

(European-American)

European-American

HGNC:5048

(HNRNPU)

HNRNPU

HGNC:1101

(BRCA2)

BRCA2

HGNC:12403

(TTN)

TTN

HGNC:9644

(PTPN11)

PTPN11

HGNC:2950

(DNAH5)

DNAH5

HGNC:5173

(HRAS)

HRAS

HGNC:6407

(KRAS)

KRAS

HGNC:7577

(MYH7)

MYH7

HGNC:2770

(DES)

DES

HGNC:4585

(GRIN2A)

GRIN2A

HGNC:11949

(TNNT2)

TNNT2

HGNC:11237

(SPG7)

SPG7

HGNC:1097

(BRAF)

BRAF

HGNC:6847

(MEK)

MEK

HGNC:6871

(ERK)

ERK

HGNC:8818

(SLC26A4)

SLC26A4

HGNC:10483

(RYR1)

RYR1

HGNC:3356

(ENPP1)

ENPP1

HGNC:3236

(EGFR)

EGFR

HGNC:4296

(GLA)

GLA

HGNC:7527

(MUTYH)

MUTYH

HGNC:3157

(EDA)

EDA

HGNC:9829

(RAF1)

RAF1

HGNC:18183

(GIPC3)

GIPC3

HGNC:28848

(TTP1)

TTP1

HGNC:8140

(OPA1)

OPA1

HGNC:9143

(PHOX2B)

PHOX2B

HGNC:11947

(TNNI3)

TNNI3

HGNC:8512

(OTC)

OTC

HGNC:1100

(BRCA1)

BRCA1

HGNC:27310

(FLCN)

FLCN

HGNC:6840

(MAP2K1)

MAP2K1

HGNC:12601

(USH2A)

USH2A

HGNC:7551

(MYBPC3)

MYBPC3

HGNC:3349

(ENG)

ENG

HGNC:3756

(FLNC)

FLNC

HGNC:1058

(BLM)

BLM

HGNC:4284

(GJB2)

GJB2

HGNC:18744

(DNAI2)

DNAI2

HGNC:3603

(FBN1)

FBN1

HGNC:7683

(NDUFA1)

NDUFA1

HGNC:5213

(HSD17B4)

HSD17B4

HGNC:7132

(KMT2A)

KMT2A

HGNC:583

(APC)

APC

HGNC:20249

(SPRED1)

SPRED1

HGNC:6547

(LDLR)

LDLR

HGNC:164

(ACTN2)

ACTN2

HGNC:26521

(LOXHD1)

LOXHD1

HGNC:1884

(CFTR)

CFTR

HGNC:7720

(NEB)

NEB

HGNC:30800

(TMIE)

TMIE

HGNC:11187

(SOS1)

SOS1

HGNC:13733

(CDH23)

CDH23

HGNC:16361

(WHRN)

WHRN

HGNC:2200

(COL2A1)

COL2A1

HGNC:2227

(COMP)

COMP

HGNC:8091

(OAT)

OAT

HGNC:16513

(TMC1)

TMC1

HGNC:6294

(KCNQ1)

KCNQ1

HGNC:3036

(DSC2)

DSC2

GENO:0000131

(in cis)

in cis

GENO:0000132

(in trans)

in trans

GENO:0000134

(hemizygous)

hemizygous

GENO:0000135

(heterozygous)

heterozygous

GENO:0000136

(homozygous)

homozygous

GENO:0000137

(unspecified zygosity)

unspecified zygosity

GENO:0000143

(Codominant)

Codominant

GENO:0000602

(homoplasmic)

homoplasmic

GENO:0000603

(heteroplasmic)

heteroplasmic

GENO:0000878

(maternally inherited)

maternally inherited

GENO:0000879

(paternally inherited)

paternally inherited

GENO:0000880

(de novo)

de novo

GENO:0000881

(Unknown)

Unknown

GENO:0000882

(somatic)

somatic

GENO:0000888

(parentally inherited)

parentally inherited

GENO:0000889

(unknown inheritance)

unknown inheritance

GENO:0000892

(Heteroplasmic mitochondrial inheritance)

Heteroplasmic mitochondrial inheritance

GENO:0000893

(Homoplasmic mitochondrial inheritance)

Homoplasmic mitochondrial inheritance

HP:0000006

(Autosomal Dominant)

Autosomal Dominant

HP:0000007

(Autosomal Recessive)

Autosomal Recessive

HP:0000256

(macrocephaly)

macrocephaly

HP:0000957

(café au lait macules (CALMs))

café au lait macules (CALMs)

HP:0000997

(axillary freckling)

axillary freckling

HP:0001417

(X linked inheritance)

X linked inheritance

HP:0001419

(X linked recessive inheritance)

X linked recessive inheritance

HP:0001423

(X-linked dominant inheritance)

X-linked dominant inheritance

HP:0001426

(Multifactorial inheritance)

Multifactorial inheritance

HP:0001427

(Mitochondrial inheritance)

Mitochondrial inheritance

HP:0001428

(Somatic mutation)

Somatic mutation

HP:0001450

(Y linked inheritance)

Y linked inheritance

HP:0001470

(Sex-limited autosomal dominant)

Sex-limited autosomal dominant

HP:0003743

(genetic anticipation)

genetic anticipation

HP:0003745

(Sporadic)

Sporadic

HP:0003829

(Incomplete)

Incomplete

HP:000XXX1

(Complete)

Complete

HP:000XXX2

(High)

High

HP:0010983

(Oligogenic)

Oligogenic

HP:0011014

(Abnormal Glucose Homeostasis)

Abnormal Glucose Homeostasis

HP:0012274

(Autosomal dominant inheritance with paternal imprinting)

Autosomal dominant inheritance with paternal imprinting

HP:0012275

(Autosomal dominant inheritance with maternal imprinting)

Autosomal dominant inheritance with maternal imprinting

HP:0012873

(Absent vas deferens)

Absent vas deferens

HP:0025352

(autosomal dominant germline de novo mutation)

autosomal dominant germline de novo mutation

HP:0031362

(Sex-limited autosomal recessive inheritance)

Sex-limited autosomal recessive inheritance

HP:0200106

(Absent/shortened dynein arms)

Absent/shortened dynein arms

IGSR:acb

(African Caribbeans in Barbados)

African Caribbeans in Barbados

IGSR:afr

(African)

African

IGSR:amr

(Ad Mixed American)

Ad Mixed American

IGSR:asw

(Americans of African Ancestry in SW USA)

Americans of African Ancestry in SW USA

IGSR:beb

(Bengali from Bangladesh)

Bengali from Bangladesh

IGSR:cdx

(Chinese Dai in Xishuangbanna, China)

Chinese Dai in Xishuangbanna, China

IGSR:ceu

(Utah Residents (CEPH) with Northern and Western European Ancestry)

Utah Residents (CEPH) with Northern and Western European Ancestry

IGSR:chb

(Han Chinese in Bejing, China)

Han Chinese in Bejing, China

IGSR:chs

(Southern Han Chinese)

Southern Han Chinese

IGSR:clm

(Colombians from Medellin, Colombia)

Colombians from Medellin, Colombia

IGSR:eas

(East Asian)

East Asian

IGSR:esn

(Esan in Nigeria)

Esan in Nigeria

IGSR:eur

(European)

European

IGSR:fin

(Finnish in Finland)

Finnish in Finland

IGSR:gbr

(British in England and Scotland)

British in England and Scotland

IGSR:gih

(Gujarati Indian from Houston, Texas)

Gujarati Indian from Houston, Texas

IGSR:gwd

(Gambian in Western Divisions in the Gambia)

Gambian in Western Divisions in the Gambia

IGSR:ibs

(Iberian Population in Spain)

Iberian Population in Spain

IGSR:itu

(Indian Telugu from the UK)

Indian Telugu from the UK

IGSR:jpt

(Japanese in Tokyo, Japan)

Japanese in Tokyo, Japan

IGSR:khv

(Kinh in Ho Chi Minh City, Vietnam)

Kinh in Ho Chi Minh City, Vietnam

IGSR:lwk

(Luhya in Webuye, Kenya)

Luhya in Webuye, Kenya

IGSR:msl

(Mende in Sierra Leone)

Mende in Sierra Leone

IGSR:mxl

(Mexican Ancestry from Los Angeles USA)

Mexican Ancestry from Los Angeles USA

IGSR:pel

(Peruvians from Lima, Peru)

Peruvians from Lima, Peru

IGSR:pjl

(Punjabi from Lahore, Pakistan)

Punjabi from Lahore, Pakistan

IGSR:pur

(Puerto Ricans from Puerto Rico)

Puerto Ricans from Puerto Rico

IGSR:sas

(South Asian)

South Asian

IGSR:stu

(Sri Lankan Tamil from the UK)

Sri Lankan Tamil from the UK

IGSR:tsi

(Toscani in Italia)

Toscani in Italia

IGSR:yri

(Yoruba in Ibadan, Nigeria)

Yoruba in Ibadan, Nigeria

LOINC:LA26332-9

(Likely Pathogenic)

Likely Pathogenic

LOINC:LA26333-7

(Uncertain Significance)

Uncertain Significance

LOINC:LA26334-5

(Likely Benign)

Likely Benign

LOINC:LA6668-3

(Pathogenic)

Pathogenic

LOINC:LA6675-8

(Benign)

Benign

MESH:D061325

(hereditary breast ovarian cancer)

hereditary breast ovarian cancer

OMIM:114480

(Breast Cancer)

Breast Cancer

OMIM:143890

(Hypercholesterolemia, Familial)

Hypercholesterolemia, Familial

OMIM:601419

(myofibrillar myopathy 1)

myofibrillar myopathy 1

OMIM:609942

(noonan syndrome 3)

noonan syndrome 3

OMIM:612555

(Breast-Ovarian Cancer, Familial, Susceptibility To, 2)

Breast-Ovarian Cancer, Familial, Susceptibility To, 2

OMIM:614065

(Myopathy, Distal, type 4)

Myopathy, Distal, type 4

Orphanet:122

(Birt-Hogg-Dube Syndrome)

Birt-Hogg-Dube Syndrome

Orphanet:1340

(cardiofaciocutaneous syndrome)

cardiofaciocutaneous syndrome

Orphanet:145

(hereditary breast and ovarian cancer syndrome)

hereditary breast and ovarian cancer syndrome

Orphanet:167848

(cardiomyopathy)

cardiomyopathy

Orphanet:216

(neuronal ceroid lipofuscinosis)

neuronal ceroid lipofuscinosis

Orphanet:217569

(hypertrophic cardiomyopathy)

hypertrophic cardiomyopathy

Orphanet:217604

(dilated cardiomyopathy)

dilated cardiomyopathy

Orphanet:244

(Primary ciliary dyskenisia)

Primary ciliary dyskenisia

Orphanet:247

(arrhythmogenic right ventricular cardiomyopathy)

arrhythmogenic right ventricular cardiomyopathy

Orphanet:2609

(Mitochondrial complex 1 deficiency)

Mitochondrial complex 1 deficiency

Orphanet:2855

(Perrault Syndrome)

Perrault Syndrome

Orphanet:3071

(costello syndrome)

costello syndrome

Orphanet:319182

(Wiedemann-Steiner syndrome)

Wiedemann-Steiner syndrome

Orphanet:324

(Fabry disease)

Fabry disease

Orphanet:364526

(Primary bone dysplasia)

Primary bone dysplasia

Orphanet:414

(Gyrate atrophy of choroid and retina)

Gyrate atrophy of choroid and retina

Orphanet:423

(Malignant hyperthermia)

Malignant hyperthermia

Orphanet:558

(Marfan Syndrome)

Marfan Syndrome

Orphanet:586

(Cystic Fibrosis)

Cystic Fibrosis

Orphanet:648

(noonan syndrome)

noonan syndrome

Orphanet:664

(Ornithine carbamoyltransferase deficiency)

Ornithine carbamoyltransferase deficiency

Orphanet:705

(Pendred syndrome)

Pendred syndrome

Orphanet:733

(Familial Adenomatous Polyposis)

Familial Adenomatous Polyposis

Orphanet:750

(pseudoachondroplasia)

pseudoachondroplasia

Orphanet:774

(hereditary hemorrhagic telangiectasia)

hereditary hemorrhagic telangiectasia

Orphanet:791

(Retinitis Pigmentosa)

Retinitis Pigmentosa

Orphanet:84

(Fanconi Anemia)

Fanconi Anemia

Orphanet:87884

(nonsyndromic deafness)

nonsyndromic deafness

Orphanet:886

(Usher syndrome)

Usher syndrome

Orphanet:98733

(Noonan syndrome and noonan-related syndrom)

Noonan syndrome and noonan-related syndrom

RO:0002527

(does not overlap region)

does not overlap region

RO:0002656

(overlaps region)

overlaps region

SEPIO:0000364

(fixed)

fixed

SEPIO:0000365

(extensible)

extensible

SEPIO:0003333

(external)

external

SEPIO-CG:98001

(Combined)

Combined

SEPIO-CG:98002

(Overall)

Overall

SEPIO-CG:99001

(high)

high

SEPIO-CG:99002

(complete)

complete

SEPIO-CG:99005

(maternal confirmation)

maternal confirmation

SEPIO-CG:99006

(paternal confirmation)

paternal confirmation

SEPIO-CG:99007

(maternal and paternal confirmation)

maternal and paternal confirmation

SEPIO-CG:99008

(no parental confirmation)

no parental confirmation

SEPIO-CG:99009

(affected)

affected

SEPIO-CG:99010

(unaffected)

unaffected

SEPIO-CG:99014

(status unknown)

status unknown

SEPIO-CG:99011

(present)

present

SEPIO-CG:99012

(absent)

absent

SEPIO-CG:99013

(unknown)

unknown

SEPIO:0000154

(assessor role)

assessor role

SEPIO:0000155

(approver role)

approver role

SEPIO:0000156

(curator role)

curator role

SEPIO:0000216

(Pathogenic Moderate)

Pathogenic Moderate

SEPIO:0000218

(None)

None

SEPIO:0000220

(Pathogenic Very Strong)

Pathogenic Very Strong

SEPIO:0000223

(Met)

Met

SEPIO:0000224

(Not Met)

Not Met

SEPIO:0000262

(1000 Genomes ascertainment method)

1000 Genomes ascertainment method

SEPIO:0000265

(High)

High

SEPIO:0000266

(Low)

Low

SEPIO:0000268

(common)

common

SEPIO:0000269

(established)

established

SEPIO:0000270

(primary)

primary

SEPIO:0000271

(suggested)

suggested

SEPIO:0000272

(unknown)

unknown

SEPIO:0000273

(low)

low

SO:0002188

(functional region)

functional region

SO:0002186

(mutational hotspot)

mutational hotspot

SEPIO:0000322

(missense effect)

missense effect

SEPIO:0000323

(splicing prediction)

splicing prediction

SEPIO:0000325

(Benign Stand Alone)

Benign Stand Alone

SEPIO:0000326

(Benign Moderate)

Benign Moderate

SEPIO:0000327

(Benign Supporting)

Benign Supporting

SEPIO:0000328

(Benign Strong)

Benign Strong

SEPIO:0000329

(Pathogenic Supporting)

Pathogenic Supporting

SEPIO:0000330

(Pathogenic Strong)

Pathogenic Strong

SEPIO:0000331

(interpreter role)

interpreter role

SEPIO:0000332

(ExAC ascertainment method)

ExAC ascertainment method

SEPIO:0000333

(ESP ascertainment method)

ESP ascertainment method

SEPIO:0000334

(gnomAD ascertainment method)

gnomAD ascertainment method

SO:0000159

(deletion)

deletion

SO:0000191

(interior intron)

interior intron

SO:0000199

(translocation)

translocation

SO:0000203

(three prime UTR)

three prime UTR

SO:0000204

(five prime UTR)

five prime UTR

SO:0000330

(conserved region)

conserved region

SEPIO-CG:99017

(not conserved region)

not conserved region

SO:0000507

(pseudogenic exon)

pseudogenic exon

SO:0000657

(repeat region )

repeat region

SO:0000667

(insertion)

insertion

SO:0001019

(copy number variation)

copy number variation

SO:0001568

(splicing variant)

splicing variant

SO:0001578

(stop lost)

stop lost

SO:0001583

(missense variant)

missense variant

SO:0001586

(non conservative missense variant)

non conservative missense variant

SO:0001587

(stop gained)

stop gained

SO:0001589

(frameshift variant)

frameshift variant

SO:0001629

(splice-site variant)

splice-site variant

SO:0001819

(synonymous variant)

synonymous variant

SO:0001823

(conservative Inframe Insertion)

conservative Inframe Insertion

SO:0001824

(disruptive inframe insertion)

disruptive inframe insertion

SO:0001825

(conservative Inframe Deletion)

conservative Inframe Deletion

SO:0001826

(disruptive inframe deletion)

disruptive inframe deletion

SO:0001909

(frameshift elongation)

frameshift elongation

SO:0002007

(MNV)

MNV

SO:0002012

(start lost)

start lost

SO:0002054

(loss of function variant)

loss of function variant

SO:0002055

(null mutation)

null mutation

SEPIO-CG:99015

(function not lost)

function not lost

SEPIO-CG:99016

(function unknown)

function unknown

SO:0002073

(no sequence alteration)

no sequence alteration

SO:1000002

(substitution)

substitution

SO:10000032

(indel)

indel

SO:1000036

(inversion)

inversion

https://www.ncbi.nlm.nih.gov/medgen/

(MedGen)

MedGen

CGEX:Fam363

(Family #001)

Family #001

CGEX:Fam364

(Family #002)

Family #002

CGEX:Fam365

(Family #003)

Family #003

CGEX:Fam366

(Family #004)

Family #004

CGEX:Fam367

(Family #005)

Family #005

CGEX:Fam368

(Family #006)

Family #006

CGEX:Fam369

(Family #007)

Family #007

CGEX:Fam370

(Family #008)

Family #008

CGEX:Fam371

(Family #009)

Family #009

CGEX:Fam372

(Family #010)

Family #010

CGEX:Fam373

(Family #011)

Family #011

CGEX:Indiv333

(individual #001)

individual #001

CGEX:Indiv334

(individual #002)

individual #002

CGEX:Indiv335

(individual #003)

individual #003

CGEX:Indiv336

(individual #004)

individual #004

CGEX:Indiv337

(individual #005)

individual #005

CGEX:Indiv338

(individual #006)

individual #006

CGEX:Indiv339

(individual #007)

individual #007

CGEX:Indiv340

(individual #008)

individual #008

CGEX:Indiv341

(individual #009)

individual #009

CGEX:Indiv342

(individual #010)

individual #010

CGEX:Indiv343

(individual #011)

individual #011

CGEX:Indiv344

(individual #012)

individual #012

CGEX:Indiv345

(individual #013)

individual #013

CGEX:Indiv346

(individual #014)

individual #014

CGEX:Indiv347

(individual #015)

individual #015

CGEX:Indiv348

(individual #016)

individual #016

CGEX:Indiv349

(individual #017)

individual #017

CGEX:Indiv350

(individual #018)

individual #018

CGEX:Indiv351

(individual #019)

individual #019

CGEX:Indiv352

(individual #020)

individual #020

CGEX:Indiv353

(individual #021)

individual #021

CGEX:Indiv354

(individual #022)

individual #022

CGEX:Indiv355

(individual #023)

individual #023

CGEX:Indiv356

(individual #024)

individual #024

CGEX:Indiv357

(individual #025)

individual #025

CGEX:Indiv358

(individual #026)

individual #026

CGEX:Indiv359

(individual #027)

individual #027

CGEX:Indiv360

(individual #028)

individual #028

CGEX:Indiv361

(individual #029)

individual #029

CGEX:Indiv362

(individual #030)

individual #030

CGEX:Ascrt0001

(LMM Hearing Loss)

LMM Hearing Loss

CGEX:Ascrt0002

(GENIUS T2D Cases)

GENIUS T2D Cases

CGEX:Ascrt0003

(GENIUS T2D Controls)

GENIUS T2D Controls

REFSEQ:NM_005228.3

(NM_005228.3)

NM_005228.3

REFSEQ:NP_005219.2

(NP_005219.2)

NP_005219.2

REFSEQ:NM_004333.4

(NM_004333.4)

NM_004333.4

REFSEQ:NM_000169.2

(NM_000169.2)

NM_000169.2

REFSEQ:NP_001360.1

(NP_001360.1)

NP_001360.1

REFSEQ:NP_056375.2

(NP_056375.2)

NP_056375.2

REFSEQ:NP_003915.2

(NP_003915.2)

NP_003915.2

REFSEQ:NM_001271208.1

(NM_001271208.1)

NM_001271208.1

REFSEQ:NM_133378.4

(NM_133378.4)

NM_133378.4

REFSEQ:NM_147196.2

(NM_147196.2)

NM_147196.2

REFSEQ:NM_000257.2

(NM_000257.2)

NM_000257.2

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

ENST00000566221.5

REFSEQ:NM_000363.4

(NM_000363.4)

NM_000363.4

REFSEQ:NM_000059.3

(NM_000059.3)

NM_000059.3

REFSEQ:NM_138691.2

(NM_138691.2)

NM_138691.2

REFSEQ:NM_002880.3

(NM_002880.3)

NM_002880.3

CGEX:AssertMethScoringAlgorithm001

ACMG ISV 2015 combining/scoring algorithm

CGEX:PredOutcome001

(Benign)

Benign

CGEX:PredOutcome002

(C0 (benign))

C0 (benign)

CGEX:PredOutcome003

(Damaging)

Damaging

CGEX:PredOutcome004

(Deleterious)

Deleterious

CGEX:PredOutcome005

(Disease-causing)

Disease-causing

CGEX:PredOutcome006

(Good (benign))

Good (benign)

CGEX:PredOutcome007

(Medium functional impact)

Medium functional impact

CGEX:PredOutcome008

(No impact)

No impact

CGEX:PredOutcome009

(Possibly damaging)

Possibly damaging

CGEX:PredOutcome010

(Probably damaging)

Probably damaging

CGEX:PredOutcome011

(Tolerated)

Tolerated