Abnormality of the upper limb - Ontology Report

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HUMAN PHENOTYPE - ANNOTATIONS	{{ watchLinkText }}
The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:	Abnormality of the upper limb	go back to main search page
Accession:	HP:0002817	browse the term
Definition:	An abnormality of the arm.
Synonyms:	exact_synonym:	Abnormality of the arm
	alt_id:	HP:0003838
	xref:	UMLS:C4020900

show annotations for term's descendants Sort by:
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Genes (1745) Variants (255)

Abnormality of the upper limb

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARL6IP6

ADP ribosylation factor like GTPase 6 interacting protein 6

IAGP

ORPHA:1556

HPO

NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396

CFAP73

cilia and flagella associated protein 73

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,149,724...113,159,276
Ensembl chr12:113,149,724...113,159,276

DDX54

DEAD-box helicase 54

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,157,173...113,185,478
Ensembl chr12:113,157,173...113,185,479

DTX1

deltex E3 ubiquitin ligase 1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,056,730...113,098,025
Ensembl chr12:113,056,730...113,098,028

GLMN

glomulin, FKBP associated protein

IAGP

ORPHA:83454

HPO

NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987

GNA11

G protein subunit alpha 11

IAGP

ORPHA:1556

HPO

NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999

GNAQ

G protein subunit alpha q

IAGP

ORPHA:624

HPO

NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811

IQCD

IQ motif containing D

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,195,446...113,221,094
Ensembl chr12:113,195,441...113,221,094

LHX5

LIM homeobox 5

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,462,033...113,471,871
Ensembl chr12:113,462,033...113,472,280

OAS1

2'-5'-oligoadenylate synthetase 1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219

OAS2

2'-5'-oligoadenylate synthetase 2

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:112,978,519...113,011,723
Ensembl chr12:112,978,395...113,011,723

OAS3

2'-5'-oligoadenylate synthetase 3

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:112,938,474...112,973,251
Ensembl chr12:112,938,051...112,976,460

PLBD2

phospholipase B domain containing 2

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,358,587...113,391,629
Ensembl chr12:113,358,566...113,391,629

RASAL1

RAS protein activator like 1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,099,278...113,136,756
Ensembl chr12:113,098,819...113,136,239

RBM19

RNA binding motif protein 19

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,816,740...113,966,325
Ensembl chr12:113,816,738...113,966,325

RITA1

RBPJ interacting and tubulin associated 1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,185,721...113,192,368
Ensembl chr12:113,185,526...113,192,368

RPH3A

rabphilin 3A

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:112,575,236...112,898,881
Ensembl chr12:112,570,380...112,898,881

SDS

serine dehydratase

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,392,445...113,403,887
Ensembl chr12:113,392,445...113,426,301

SDSL

serine dehydratase like

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,422,380...113,438,276
Ensembl chr12:113,422,380...113,438,276

SLC8B1

solute carrier family 8 member B1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493

TBX3

T-box transcription factor 3

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TPCN1

two pore segment channel 1

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

NCBI chr12:113,221,464...113,298,585
Ensembl chr12:113,221,050...113,298,585

USH2A

usherin

IAGP

ClinVar Annotator: match by term: Abnormality of the upper limb

ClinVar

PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More...

NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448

4-5 metacarpal synostosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EIF4A3

eukaryotic translation initiation factor 4A3

IAGP

OMIM:268305

HPO

NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151

FGF16

fibroblast growth factor 16

IAGP

OMIM:309630

HPO

NCBI chr X:77,447,389...77,457,278
Ensembl chr X:77,447,389...77,457,278

HOXD13

homeobox D13

IAGP

OMIM:186300

HPO

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

SMOC1

SPARC related modular calcium binding 1

IAGP

OMIM:206920

HPO

NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366

6 metacarpals

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

HOXD13

homeobox D13

IAGP

OMIM:186000

HPO

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

LMBR1

limb development membrane protein 1

IAGP

OMIM:186200 ORPHA:93405

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

SHH

sonic hedgehog signaling molecule

IAGP

ORPHA:93405

HPO

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

Abnormal 5th metacarpal morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CSPP1

centrosome and spindle pole associated protein 1

IAGP

ORPHA:397715

HPO

NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778

KIAA0586

IAGP

ORPHA:397715

HPO

NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297

Abnormal calcification of the carpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC6

ATP binding cassette subfamily C member 6

IAGP

ORPHA:51608

HPO

NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522

DDR2

discoidin domain receptor tyrosine kinase 2

IAGP

OMIM:271665

HPO

NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

IAGP

ORPHA:51608

HPO

NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155

Abnormal carpal morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:85166

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

IAGP

OMIM:216100

HPO

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

EXT1

exostosin glycosyltransferase 1

IAGP

ORPHA:321

HPO

NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826

EXT2

exostosin glycosyltransferase 2

IAGP

ORPHA:321

HPO

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

NIN

ninein

IAGP

OMIM:614851 ORPHA:319675

HPO

NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162

PITX1

paired like homeodomain 1

IAGP

OMIM:186550

HPO

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

RECQL4

RecQ like helicase 4

IAGP

ORPHA:1225

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

SHOX

short stature homeobox

IAGP

OMIM:127300 ORPHA:240 ORPHA:2632

HPO

NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411

TBX5

T-box transcription factor 5

IAGP

OMIM:142900

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Abnormal distal phalanx morphology of finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

B3GALT6

beta-1,3-galactosyltransferase 6

IAGP

ORPHA:2725

HPO

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

MACROH2A1

macroH2A.1 histone

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914

PITX1

paired like homeodomain 1

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

IAGP

ORPHA:1387

HPO

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

IAGP

ORPHA:1387

HPO

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

IAGP

ORPHA:175

HPO

NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017

Abnormal epiphysis morphology of the phalanges of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL2A1

collagen type II alpha 1 chain

IAGP

OMIM:619248

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

Abnormal finger flexion creases

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATR

ATR serine/threonine kinase

IAGP

OMIM:210600

HPO

NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733

GDF5

growth differentiation factor 5

IAGP

OMIM:615298

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

WNT7A

Wnt family member 7A

IAGP

OMIM:228930

HPO

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

Abnormal finger phalanx morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GDF5

growth differentiation factor 5

IAGP

DNA:missense mutation:cds:c.1195C>T(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)

RGD

PMID:20683927 PMID:23812741

RGD:12437076, RGD:12437083

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

Abnormal fingertip morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CHD1

chromodomain helicase DNA binding protein 1

IAGP

ORPHA:529965

HPO

NCBI chr 5:98,853,985...98,929,007
Ensembl chr 5:98,853,985...98,929,007

GSTM1

glutathione S-transferase mu 1

susceptibility

IAGP

DNA:missense mutation:cds:p.K173N

RGD

PMID:15135176

RGD:12798510

NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039

LAMA3

laminin subunit alpha 3

IAGP

ORPHA:79404

HPO

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB3

laminin subunit beta 3

IAGP

ORPHA:79404

HPO

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

IAGP

ORPHA:79404

HPO

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

PTH1R

parathyroid hormone 1 receptor

IAGP

ORPHA:79106

HPO

NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799

ZMPSTE24

zinc metallopeptidase STE24

IAGP

ORPHA:90154

HPO

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

Abnormal forearm morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL7A1

collagen type VII alpha 1 chain

IAGP

ORPHA:89843

HPO

NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329

RAI1

retinoic acid induced 1

IAGP

OMIM:182290

HPO

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

Abnormal hand bone ossification

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FLNA

filamin A

IAGP

OMIM:300244

HPO

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

TRIP11

thyroid hormone receptor interactor 11

IAGP

OMIM:200600

HPO

NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896

Abnormal hand metaphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL10A1

collagen type X alpha 1 chain

IAGP

ORPHA:174

HPO

NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:166011

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

Abnormal hand morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANKRD11

ankyrin repeat domain containing 11

IAGP

DNA:mutations:CDS:multiple

RGD

PMID:25424714

RGD:11086621

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561

GAN

gigaxonin

IAGP

ORPHA:643

HPO

NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809

SLC39A13

solute carrier family 39 member 13

IAGP

DNA:deletion:cds:c.483_491del9

RGD

PMID:18513683

RGD:11553863

NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496

SPART

spartin

IAGP

ORPHA:101000

HPO

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

Abnormal humeral metaphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TRPV4

transient receptor potential cation channel subfamily V member 4

IAGP

ORPHA:93314

HPO

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

Abnormal metacarpal epiphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

POR

cytochrome p450 oxidoreductase

IAGP

ORPHA:95699

HPO

NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855

Abnormal metacarpal morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AKT1

AKT serine/threonine kinase 1

IAGP

ORPHA:744

HPO

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751

APC

APC regulator of WNT signaling pathway

IAGP

ORPHA:3258

HPO

NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239

ARHGAP31

Rho GTPase activating protein 31

IAGP

ORPHA:974

HPO

NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714

CLCN7

chloride voltage-gated channel 7

IAGP

ORPHA:53

HPO

NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077

COL11A2

collagen type XI alpha 2 chain

IAGP

ORPHA:166100

HPO

NCBI chr 6:33,162,694...33,193,137
Ensembl chr 6:33,162,681...33,192,499

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:166100

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

DHCR7

7-dehydrocholesterol reductase

IAGP

ORPHA:818

HPO

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DLL4

delta like canonical Notch ligand 4

IAGP

ORPHA:974

HPO

NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073

DOCK6

dedicator of cytokinesis 6

IAGP

ORPHA:974

HPO

NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524

EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

IAGP

ORPHA:974

HPO

NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

IAGP

ORPHA:2319

HPO

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

FGFR3

fibroblast growth factor receptor 3

IAGP

ORPHA:93262

HPO

NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872

FLNA

filamin A

IAGP

ORPHA:90652

HPO

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FLNB

filamin B

IAGP

ORPHA:1263

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

INPP5K

inositol polyphosphate-5-phosphatase K

IAGP

ORPHA:559

HPO

NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742

LMBR1

limb development membrane protein 1

IAGP

ORPHA:2378

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

LRP4

LDL receptor related protein 4

IAGP

ORPHA:3258

HPO

NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642

MKKS

MKKS centrosomal shuttling protein

IAGP

ORPHA:2473

HPO

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

NOTCH1

notch receptor 1

IAGP

ORPHA:974

HPO

NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048

PTDSS1

phosphatidylserine synthase 1

IAGP

ORPHA:2658

HPO

NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995

PTEN

phosphatase and tensin homolog

IAGP

ORPHA:744

HPO

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930

RBPJ

recombination signal binding protein for immunoglobulin kappa J region

IAGP

ORPHA:974

HPO

NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131

RECQL4

RecQ like helicase 4

IAGP

ORPHA:1225

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

RNU4ATAC

RNA, U4atac small nuclear

IAGP

ORPHA:2636

HPO

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

RUNX2

RUNX family transcription factor 2

IAGP

ORPHA:1452

HPO

NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349

SH3PXD2B

SH3 and PX domains 2B

IAGP

ORPHA:137834

HPO

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SIL1

SIL1 nucleotide exchange factor

IAGP

ORPHA:559

HPO

NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557

SLC25A24

solute carrier family 25 member 24

IAGP

ORPHA:2095

HPO

NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849

SLC26A2

solute carrier family 26 member 2

IAGP

ORPHA:628

HPO

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

IAGP

ORPHA:3051

HPO

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

SMOC1

SPARC related modular calcium binding 1

IAGP

ORPHA:1106

HPO

NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

ORPHA:392

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Abnormal metacarpophalangeal joint morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANKRD55

ankyrin repeat domain 55

IAGP

ORPHA:85408

HPO

NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330

BMP6

bone morphogenetic protein 6

IAGP

ORPHA:465508

HPO

NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728

CD247

CD247 molecule

IAGP

ORPHA:85408

HPO

NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:166011

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

GJB6

gap junction protein beta 6

IAGP

ORPHA:189

HPO

NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365

HFE

homeostatic iron regulator

IAGP

ORPHA:465508

HPO

NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343

IL2RA

interleukin 2 receptor subunit alpha

IAGP

ORPHA:85408

HPO

NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370

IL2RB

interleukin 2 receptor subunit beta

IAGP

ORPHA:85408

HPO

NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118

POR

cytochrome p450 oxidoreductase

IAGP

ORPHA:95699

HPO

NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855

PTPN2

protein tyrosine phosphatase non-receptor type 2

IAGP

ORPHA:85408

HPO

NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643

PTPN22

protein tyrosine phosphatase non-receptor type 22

IAGP

ORPHA:85408

HPO

NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753

STAT4

signal transducer and activator of transcription 4

IAGP

ORPHA:85408

HPO

NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596

Abnormal morphology of the radius

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BMPR1B

bone morphogenetic protein receptor type 1B

IAGP

ORPHA:2639

HPO

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

FLNB

filamin B

IAGP

ORPHA:1263

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

GDF5

growth differentiation factor 5

IAGP

ORPHA:2639

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

GPC6

glypican 6

IAGP

ORPHA:93329

HPO

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Abnormal morphology of ulna

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AGA

aspartylglucosaminidase

IAGP

ORPHA:93

HPO

NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437

BMPR1B

bone morphogenetic protein receptor type 1B

IAGP

ORPHA:2639

HPO

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

BRAF

B-Raf proto-oncogene, serine/threonine kinase

IAGP

ORPHA:1340

HPO

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

EXT1

exostosin glycosyltransferase 1

IAGP

ORPHA:321

HPO

NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826

EXT2

exostosin glycosyltransferase 2

IAGP

ORPHA:321

HPO

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

FLNB

filamin B

IAGP

ORPHA:1263

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

GDF5

growth differentiation factor 5

IAGP

ORPHA:2639

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

KRAS

KRAS proto-oncogene, GTPase

IAGP

ORPHA:1340

HPO

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

MACROH2A1

macroH2A.1 histone

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914

MAP2K1

mitogen-activated protein kinase kinase 1

IAGP

ORPHA:1340

HPO

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

MAP2K2

mitogen-activated protein kinase kinase 2

IAGP

ORPHA:1340

HPO

NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122

PITX1

paired like homeodomain 1

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

PLXND1

plexin D1

IAGP

ORPHA:570

HPO

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

IAGP

ORPHA:570

HPO

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

SHOX

short stature homeobox

IAGP

ORPHA:2632

HPO

NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411

TGFB1

transforming growth factor beta 1

IAGP

ORPHA:1328

HPO

NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922

Abnormal palmar dermatoglyphics

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BCOR

BCL6 corepressor

IAGP

OMIM:309800

HPO

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

CHD7

chromodomain helicase DNA binding protein 7

IAGP

OMIM:214800

HPO

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

IAGP

OMIM:309800

HPO

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

PORCN

porcupine O-acyltransferase

IAGP

ORPHA:2092

HPO

NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

IAGP

ORPHA:2728

HPO

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

TYMS

thymidylate synthetase

IAGP

OMIM:620040

HPO

NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578

Abnormal phalangeal joint morphology of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CFTR

CF transmembrane conductance regulator

IAGP

ORPHA:498359

HPO

NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971

Abnormal proximal phalanx morphology of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CREBBP

CREB binding protein

IAGP

ORPHA:353277

HPO

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

EP300

E1A binding protein p300

IAGP

ORPHA:353284

HPO

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077

Abnormal thumb morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BMPR1B

bone morphogenetic protein receptor type 1B

IAGP

ORPHA:2639

HPO

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

CLIC2

chloride intracellular channel 2

IAGP

ORPHA:324410

HPO

NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657

CREBBP

CREB binding protein

IAGP

ClinVar Annotator: match by term: Abnormality of the thumb

ClinVar

PMID:25741868

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

EP300

E1A binding protein p300

IAGP

ClinVar Annotator: match by term: Abnormality of the thumb

ClinVar

PMID:25741868

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077

FANCG

FA complementation group G

IAGP

OMIM:614082

HPO

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FIBP

FGF1 intracellular binding protein

IAGP

ORPHA:500095

HPO

NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531

FLNB

filamin B

IAGP

DNA:mutations:cds:

RGD

PMID:27048506

RGD:12791024

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

GDF5

growth differentiation factor 5

IAGP

ORPHA:2639

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

MED12

mediator complex subunit 12

IAGP

ORPHA:93932

HPO

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

IAGP

ORPHA:67036

HPO

NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212

RUNX2

RUNX family transcription factor 2

IAGP

ORPHA:1452

HPO

NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349

SF3B4

splicing factor 3b subunit 4

IAGP

DNA:mutations, haploinsufficiency:exon:multiple (human)

RGD

PMID:22541558

RGD:11062353

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SPART

spartin

IAGP

ORPHA:101000

HPO

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

TBX5

T-box transcription factor 5

IAGP

ClinVar Annotator: match by term: Abnormality of the thumbs

ClinVar

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Abnormal ulnar epiphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SLC26A2

solute carrier family 26 member 2

IAGP

ORPHA:93307

HPO

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

Abnormal ulnar metaphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANAPC1

anaphase promoting complex subunit 1

IAGP

ORPHA:221008

HPO

NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:85198

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

MAGEL2

MAGE family member L2

IAGP

ORPHA:177910

HPO

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

MMP13

matrix metallopeptidase 13

IAGP

ORPHA:1040

HPO

NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732

MMP9

matrix metallopeptidase 9

IAGP

ORPHA:1040

HPO

NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561

NDN

necdin, MAGE family member

IAGP

ORPHA:177910

HPO

NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305

RECQL4

RecQ like helicase 4

IAGP

ORPHA:221016

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

SNRPN

small nuclear ribonucleoprotein polypeptide N

IAGP

ORPHA:177910

HPO

NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723

Abnormal upper limb bone morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

USH2A

usherin

IAGP

ClinVar Annotator: match by term: Abnormal morphology of bones of the upper limbs

ClinVar

PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More...

NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448

Abnormality of finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP13A2

ATPase cation transporting 13A2

IAGP

ORPHA:306674

HPO

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

CYP27A1

cytochrome P450 family 27 subfamily A member 1

IAGP

ORPHA:909

HPO

NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

IAGP

ORPHA:811

HPO

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

EFL1

elongation factor like GTPase 1

IAGP

ORPHA:811

HPO

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

HOXD13

homeobox D13

IAGP

ClinVar Annotator: match by term: Abnormality of finger

ClinVar

PMID:25741868

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

HRAS

HRas proto-oncogene, GTPase

IAGP

OMIM:163200

HPO

NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321

INPP5K

inositol polyphosphate-5-phosphatase K

IAGP

ORPHA:559

HPO

NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742

KRAS

KRAS proto-oncogene, GTPase

IAGP

OMIM:163200

HPO

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

NRAS

NRAS proto-oncogene, GTPase

IAGP

OMIM:163200

HPO

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

SBDS

SBDS ribosome maturation factor

IAGP

ORPHA:811

HPO

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

SIL1

SIL1 nucleotide exchange factor

IAGP

ORPHA:559

HPO

NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557

SRP54

signal recognition particle 54

IAGP

ORPHA:811

HPO

NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686

Abnormality of hand joint mobility

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCN6

cellular communication network factor 6

IAGP

ORPHA:1159

HPO

NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686

Abnormality of radial epiphyses

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL9A1

collagen type IX alpha 1 chain

IAGP

ORPHA:166002

HPO

NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084

COL9A2

collagen type IX alpha 2 chain

IAGP

ORPHA:166002

HPO

NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813

COL9A3

collagen type IX alpha 3 chain

IAGP

ORPHA:166002

HPO

NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159

Abnormality of the distal phalanx of the thumb

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CWF19L1

CWF19 like cell cycle control factor 1

IAGP

ORPHA:453521

HPO

NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680

Abnormality of the elbow

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASAH1

N-acylsphingosine amidohydrolase 1

IAGP

ORPHA:333

HPO

NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998

CCDC8

coiled-coil domain containing 8

IAGP

ORPHA:2616

HPO

NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564

CCN6

cellular communication network factor 6

IAGP

ORPHA:1159

HPO

NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686

COL7A1

collagen type VII alpha 1 chain

IAGP

ORPHA:158673 ORPHA:89843

HPO

NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329

CUL7

cullin 7

IAGP

ORPHA:2616

HPO

NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943

CYP27A1

cytochrome P450 family 27 subfamily A member 1

IAGP

ORPHA:909

HPO

NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

IAGP

ORPHA:2319

HPO

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

FGFR3

fibroblast growth factor receptor 3

IAGP

ORPHA:429

HPO

NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872

GHR

growth hormone receptor

IAGP

ORPHA:633

HPO

NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878

GLE1

GLE1 RNA export mediator

IAGP

ORPHA:1486

HPO

NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874

IDUA

alpha-L-iduronidase

IAGP

ORPHA:93473

HPO

NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564

KMT2A

lysine methyltransferase 2A

IAGP

ORPHA:319182

HPO

NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832

OBSL1

obscurin like cytoskeletal adaptor 1

IAGP

ORPHA:2616

HPO

NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859

PPP1CB

protein phosphatase 1 catalytic subunit beta

IAGP

ORPHA:2701

HPO

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

SHOC2

SHOC2 leucine rich repeat scaffold protein

IAGP

ORPHA:2701

HPO

NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307

Abnormality of the epiphyses of the elbow

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL9A1

collagen type IX alpha 1 chain

IAGP

ORPHA:166002

HPO

NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084

COL9A2

collagen type IX alpha 2 chain

IAGP

ORPHA:166002

HPO

NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813

COL9A3

collagen type IX alpha 3 chain

IAGP

ORPHA:166002

HPO

NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159

Abnormality of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALMS1

ALMS1 centrosome and basal body associated protein

IAGP

OMIM:203800

HPO

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

ATP7B

ATPase copper transporting beta

IAGP

ORPHA:905

HPO

NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

DGCR2

DiGeorge syndrome critical region gene 2

IAGP

OMIM:192430

HPO

NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454

DGCR6

DiGeorge syndrome critical region gene 6

IAGP

OMIM:192430

HPO

NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238

DGCR8

DGCR8 microprocessor complex subunit

IAGP

OMIM:192430

HPO

NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877

DONSON

DNA replication fork stabilization factor DONSON

IAGP

OMIM:251230

HPO

NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706

ESS2

ess-2 splicing factor homolog

IAGP

OMIM:192430

HPO

NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684

GLA

galactosidase alpha

IAGP

OMIM:301500

HPO

NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012

GNPTG

N-acetylglucosamine-1-phosphate transferase subunit gamma

IAGP

OMIM:252605

HPO

NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737

HK1

hexokinase 1

IAGP

ORPHA:99953

HPO

NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884

KCNA1

potassium voltage-gated channel subfamily A member 1

IAGP

OMIM:160120

HPO

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

LIG3

DNA ligase 3

IAGP

ORPHA:298

HPO

NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743

MED13L

mediator complex subunit 13L

IAGP

ORPHA:369891

HPO

NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693

MEFV

MEFV innate immunity regulator, pyrin

IAGP

ORPHA:3243

HPO

NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633

NDRG1

N-myc downstream regulated 1

IAGP

OMIM:601455

HPO

NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022

PNPLA6

patatin like phospholipase domain containing 6

IAGP

OMIM:245800

HPO

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

POLG

DNA polymerase gamma, catalytic subunit

IAGP

ORPHA:298

HPO

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

IAGP

ORPHA:298

HPO

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

SPG11

SPG11 vesicle trafficking associated, spatacsin

IAGP

OMIM:616668

HPO

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

TBX1

T-box transcription factor 1

IAGP

OMIM:192430

HPO

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TYMP

thymidine phosphorylase

IAGP

ORPHA:298

HPO

NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032

TYROBP

transmembrane immune signaling adaptor TYROBP

IAGP

OMIM:221770

HPO

NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295

Abnormality of the humerus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FLNB

filamin B

IAGP

ORPHA:1263

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

MACROH2A1

macroH2A.1 histone

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914

PITX1

paired like homeodomain 1

IAGP

ORPHA:1275

HPO

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

SHOX

short stature homeobox

IAGP

OMIM:127300 ORPHA:240

HPO

NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

ORPHA:392

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TGFB1

transforming growth factor beta 1

IAGP

ORPHA:1328

HPO

NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922

Abnormality of the hypothenar eminence

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AAAS

aladin WD repeat nucleoporin

IAGP

ORPHA:869

HPO

NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864

GMPPA

GDP-mannose pyrophosphorylase A

IAGP

ORPHA:869

HPO

NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898

TRAPPC11

trafficking protein particle complex subunit 11

IAGP

ORPHA:869

HPO

NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594

Abnormality of the joint spaces of the elbow

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TBX15

T-box transcription factor 15

IAGP

ORPHA:93333

HPO

NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556

Abnormality of the palmar creases

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAMTSL1

ADAMTS like 1

IAGP

ORPHA:521445

HPO

NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950

WDR37

WD repeat domain 37

IAGP

OMIM:618652

HPO

NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991

Abnormality of the radial head

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANAPC1

anaphase promoting complex subunit 1

IAGP

ORPHA:221008

HPO

NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

IAGP

OMIM:216100

HPO

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

RECQL4

RecQ like helicase 4

IAGP

ORPHA:221016

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

Abnormality of the radioulnar joints

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TRPV4

transient receptor potential cation channel subfamily V member 4

IAGP

ORPHA:93314

HPO

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

Abnormality of the scaphoid

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

ORPHA:93321

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

SHH

sonic hedgehog signaling molecule

IAGP

ORPHA:93321

HPO

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

Abnormality of the shoulder girdle musculature

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DMD

dystrophin

IAGP

ORPHA:206546

HPO

NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609

PNPLA2

patatin like phospholipase domain containing 2

IAGP

ORPHA:565612

HPO

NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573

Abnormality of the thenar eminence

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA2

adenosine deaminase 2

IAGP

ORPHA:124

HPO

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

GATA1

GATA binding protein 1

IAGP

ORPHA:124

HPO

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

RPL11

ribosomal protein L11

IAGP

ORPHA:124

HPO

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

IAGP

ORPHA:124

HPO

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

IAGP

ORPHA:124

HPO

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

IAGP

ORPHA:124

HPO

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

IAGP

ORPHA:124

HPO

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

IAGP

ORPHA:124

HPO

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

IAGP

ORPHA:124

HPO

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

IAGP

ORPHA:124

HPO

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

RPL5

ribosomal protein L5

IAGP

ORPHA:124

HPO

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

RPS10

ribosomal protein S10

IAGP

ORPHA:124

HPO

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

IAGP

ORPHA:124

HPO

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

IAGP

ORPHA:124

HPO

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

IAGP

ORPHA:124

HPO

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

IAGP

ORPHA:124

HPO

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

IAGP

ORPHA:124

HPO

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

IAGP

ORPHA:124

HPO

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

IAGP

ORPHA:124

HPO

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

IAGP

ORPHA:124

HPO

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

IAGP

ORPHA:124

HPO

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

RPS7

ribosomal protein S7

IAGP

ORPHA:124

HPO

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

TSR2

TSR2 ribosome maturation factor

IAGP

ORPHA:124

HPO

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

Abnormality of the trapezium

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

ORPHA:93321

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

SHH

sonic hedgehog signaling molecule

IAGP

ORPHA:93321

HPO

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

Abnormality of the wrist

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AKT1

AKT serine/threonine kinase 1

IAGP

ORPHA:744

HPO

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751

ANKRD55

ankyrin repeat domain 55

IAGP

ORPHA:85408

HPO

NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330

ASAH1

N-acylsphingosine amidohydrolase 1

IAGP

ORPHA:333

HPO

NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998

ATP7A

ATPase copper transporting alpha

IAGP

ORPHA:198

HPO

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

BPTF

bromodomain PHD finger transcription factor

IAGP

ORPHA:529962

HPO

NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378

CD247

CD247 molecule

IAGP

ORPHA:85408

HPO

NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640

COL2A1

collagen type II alpha 1 chain

IAGP

ORPHA:93316

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

COL7A1

collagen type VII alpha 1 chain

IAGP

ORPHA:89843

HPO

NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

IAGP

ORPHA:2319

HPO

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

IL2RA

interleukin 2 receptor subunit alpha

IAGP

ORPHA:85408

HPO

NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370

IL2RB

interleukin 2 receptor subunit beta

IAGP

ORPHA:85408

HPO

NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118

LMBR1

limb development membrane protein 1

IAGP

ORPHA:2378

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

PSMD12

proteasome 26S subunit, non-ATPase 12

IAGP

ORPHA:529962

HPO

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

PTEN

phosphatase and tensin homolog

IAGP

ORPHA:744

HPO

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930

PTPN2

protein tyrosine phosphatase non-receptor type 2

IAGP

ORPHA:85408

HPO

NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643

PTPN22

protein tyrosine phosphatase non-receptor type 22

IAGP

ORPHA:85408

HPO

NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753

STAT4

signal transducer and activator of transcription 4

IAGP

ORPHA:85408

HPO

NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Abnormality of upper limb epiphysis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MATN3

matrilin 3

IAGP

ORPHA:93311

HPO

NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668

Abnormality of upper limb joint

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

USH2A

usherin

IAGP

ClinVar Annotator: match by term: Abnormality of upper limb joint

ClinVar

PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More...

NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448

Abnormally shaped carpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GDF5

growth differentiation factor 5

IAGP

OMIM:201250 ORPHA:968

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

KIF22

kinesin family member 22

IAGP

ORPHA:93360

HPO

NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385

Absent distal interphalangeal creases

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

HOXD13

homeobox D13

IAGP

OMIM:186300

HPO

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

IHH

Indian hedgehog signaling molecule

IAGP

OMIM:112500

HPO

NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921

LMX1B

LIM homeobox transcription factor 1 beta

IAGP

OMIM:161200

HPO

NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032

TPM2

tropomyosin 2

IAGP

OMIM:108120

HPO

NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056

Absent distal phalanges

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

IAGP

OMIM:619339

HPO

NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596

KCNN3

potassium calcium-activated channel subfamily N member 3

IAGP

OMIM:618658

HPO

NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281

LBR

lamin B receptor

IAGP

OMIM:215140

HPO

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

NOG

noggin

IAGP

OMIM:186500

HPO

NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611

SLC25A24

solute carrier family 25 member 24

IAGP

OMIM:612289

HPO

NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849

TGFBR2

transforming growth factor beta receptor 2

IAGP

OMIM:610168

HPO

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142

Absent epiphyses of the phalanges of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TRPV4

transient receptor potential cation channel subfamily V member 4

IAGP

ORPHA:93314

HPO

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

Absent forearm

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

OMIM:200500

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

Absent fourth finger distal interphalangeal crease

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RBBP8

RB binding protein 8, endonuclease

IAGP

OMIM:251255

HPO

NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488

TLK2

tousled like kinase 2

IAGP

OMIM:618050

HPO

NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481

Absent hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARHGAP31

Rho GTPase activating protein 31

IAGP

ORPHA:974

HPO

NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714

BTRC

beta-transducin repeat containing E3 ubiquitin protein ligase

IAGP

ORPHA:2440

HPO

NCBI chr10:101,354,048...101,557,313
Ensembl chr10:101,354,033...101,557,321

DLL4

delta like canonical Notch ligand 4

IAGP

ORPHA:974

HPO

NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073

DLX5

distal-less homeobox 5

IAGP

ORPHA:2440

HPO

NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950

DLX6

distal-less homeobox 6

IAGP

ORPHA:2440

HPO

NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040

DOCK6

dedicator of cytokinesis 6

IAGP

ORPHA:974

HPO

NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524

EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

IAGP

ORPHA:974

HPO

NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684

EPS15L1

epidermal growth factor receptor pathway substrate 15 like 1

IAGP

ORPHA:2440

HPO

NCBI chr19:16,355,247...16,472,012
Ensembl chr19:16,355,239...16,472,085

FBXW4

F-box and WD repeat domain containing 4

IAGP

ORPHA:2440

HPO

NCBI chr10:101,610,666...101,695,295
Ensembl chr10:101,610,664...101,695,295

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

IAGP

ORPHA:464

HPO

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

LMBR1

limb development membrane protein 1

IAGP

OMIM:200500 ORPHA:931

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

NOTCH1

notch receptor 1

IAGP

ORPHA:974

HPO

NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048

PLXND1

plexin D1

IAGP

ORPHA:570

HPO

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

RBPJ

recombination signal binding protein for immunoglobulin kappa J region

IAGP

ORPHA:974

HPO

NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

IAGP

ORPHA:570

HPO

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

SEM1

SEM1 26S proteasome subunit

IAGP

ORPHA:2440

HPO

NCBI chr 7:96,481,626...96,709,846
Ensembl chr 7:96,481,626...96,709,880

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TP63

tumor protein p63

IAGP

ORPHA:2440

HPO

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

WNT10B

Wnt family member 10B

IAGP

ORPHA:2440

HPO

NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735

Absent humerus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FLNB

filamin B

IAGP

ORPHA:56305

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

Absent middle phalanx of 2nd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FIG4

FIG4 phosphoinositide 5-phosphatase

IAGP

OMIM:216340

HPO

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

IFT140

intraflagellar transport 140

IAGP

OMIM:266920

HPO

NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072

NSDHL

NAD(P) dependent steroid dehydrogenase-like

IAGP

OMIM:308050

HPO

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

Absent middle phalanx of 3rd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NSDHL

NAD(P) dependent steroid dehydrogenase-like

IAGP

OMIM:308050

HPO

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

Absent middle phalanx of 5th finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP6V1B2

ATPase H+ transporting V1 subunit B2

IAGP

OMIM:124480

HPO

NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819

GJA1

gap junction protein alpha 1

IAGP

OMIM:186100

HPO

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

IFT140

intraflagellar transport 140

IAGP

OMIM:266920

HPO

NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072

Absent palmar crease

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DOK7

docking protein 7

IAGP

ORPHA:994

HPO

NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473

MUSK

muscle associated receptor tyrosine kinase

IAGP

ORPHA:994

HPO

NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558

MYH3

myosin heavy chain 3

IAGP

ORPHA:2053

HPO

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

MYOD1

myogenic differentiation 1

IAGP

ORPHA:994

HPO

NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136

NALCN

sodium leak channel, non-selective

IAGP

ORPHA:2053

HPO

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

NUP88

nucleoporin 88

IAGP

ORPHA:994

HPO

NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164

PIEZO2

piezo type mechanosensitive ion channel component 2

IAGP

ORPHA:1154

HPO

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

RAPSN

receptor associated protein of the synapse

IAGP

ORPHA:994

HPO

NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143

RIPK4

receptor interacting serine/threonine kinase 4

IAGP

OMIM:263650

HPO

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

SLC18A3

solute carrier family 18 member A3

IAGP

ORPHA:994

HPO

NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720

SLC39A13

solute carrier family 39 member 13

IAGP

ORPHA:157965

HPO

NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496

TUBA1A

tubulin alpha 1a

IAGP

ORPHA:994

HPO

NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080

Absent phalangeal crease

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL1A2

collagen type I alpha 2 chain

IAGP

ORPHA:230851

HPO

NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227

MYH3

myosin heavy chain 3

IAGP

OMIM:618469

HPO

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

NOG

noggin

IAGP

OMIM:611377

HPO

NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611

PIEZO2

piezo type mechanosensitive ion channel component 2

IAGP

OMIM:108145

HPO

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

TNNI2

troponin I2, fast skeletal type

IAGP

OMIM:601680

HPO

NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680

Absent proximal finger flexion creases

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MET

MET proto-oncogene, receptor tyrosine kinase

IAGP

OMIM:620019

HPO

NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377

NOG

noggin

IAGP

OMIM:186500

HPO

NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611

TBX15

T-box transcription factor 15

IAGP

OMIM:260660

HPO

NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556

Absent proximal phalanx of thumb

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FGFR2

fibroblast growth factor receptor 2

IAGP

OMIM:149730

HPO

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

Absent radius

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CHD7

chromodomain helicase DNA binding protein 7

IAGP

OMIM:214800

HPO

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CHN1

chimerin 1

IAGP

ORPHA:233

HPO

NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381

DONSON

DNA replication fork stabilization factor DONSON

IAGP

OMIM:251230

HPO

NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706

FANCA

FA complementation group A

IAGP

OMIM:227650

HPO

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

IAGP

OMIM:314390

HPO

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

IAGP

OMIM:227645

HPO

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

IAGP

OMIM:227646

HPO

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

IAGP

OMIM:600901

HPO

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCL

FA complementation group L

IAGP

OMIM:614083

HPO

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FGFR2

fibroblast growth factor receptor 2

IAGP

OMIM:149730

HPO

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FLNB

filamin B

IAGP

OMIM:112310 ORPHA:56305

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

GLI3

GLI family zinc finger 3

IAGP

ORPHA:93322

HPO

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

LMBR1

limb development membrane protein 1

IAGP

OMIM:135750 OMIM:200500 ORPHA:2378 ORPHA:931

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

MAFB

MAF bZIP transcription factor B

IAGP

ORPHA:233

HPO

NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236

RBM8A

RNA binding motif protein 8A

IAGP

ORPHA:3320

HPO

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RECQL4

RecQ like helicase 4

IAGP

OMIM:218600
ClinVar Annotator: match by term: Absent radius

HPO
ClinVar

PMID:28492532

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

RIPK4

receptor interacting serine/threonine kinase 4

IAGP

OMIM:263650

HPO

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

SALL4

spalt like transcription factor 4

IAGP

ORPHA:233

HPO

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

SF3B4

splicing factor 3b subunit 4

IAGP

OMIM:154400

HPO

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

OMIM:142900

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

XRCC2

X-ray repair cross complementing 2

IAGP

OMIM:617247

HPO

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

ZIC3

Zic family member 3

IAGP

OMIM:314390

HPO

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

Absent scaphoid

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

XRCC2

X-ray repair cross complementing 2

IAGP

OMIM:617247

HPO

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

Absent styloid process of ulna

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL2A1

collagen type II alpha 1 chain

IAGP

OMIM:271700

HPO

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

Absent thumb

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA2

adenosine deaminase 2

IAGP

ORPHA:124

HPO

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

CUL3

cullin 3

IAGP

OMIM:619239

HPO

NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

IAGP

OMIM:615272

HPO

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

FANCA

FA complementation group A

IAGP

OMIM:227650

HPO

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

IAGP

OMIM:300514

HPO

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

IAGP

OMIM:227645

HPO

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

IAGP

OMIM:227646

HPO

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

IAGP

OMIM:600901

HPO

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

IAGP

OMIM:603467

HPO

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCI

FA complementation group I

IAGP

OMIM:609053

HPO

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

IAGP

OMIM:614083

HPO

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FGF10

fibroblast growth factor 10

IAGP

ORPHA:2363

HPO

NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706

FGFR2

fibroblast growth factor receptor 2

IAGP

ORPHA:2363

HPO

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FGFR3

fibroblast growth factor receptor 3

IAGP

ORPHA:2363

HPO

NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872

FIG4

FIG4 phosphoinositide 5-phosphatase

IAGP

OMIM:216340 ORPHA:3472

HPO

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

GATA1

GATA binding protein 1

IAGP

ORPHA:124

HPO

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

PSMD12

proteasome 26S subunit, non-ATPase 12

IAGP

OMIM:617516

HPO

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

RAD51C

RAD51 paralog C

IAGP

OMIM:613390

HPO

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RECQL4

RecQ like helicase 4

IAGP

OMIM:266280

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

RFWD3

ring finger and WD repeat domain 3

IAGP

OMIM:617784

HPO

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RIPK4

receptor interacting serine/threonine kinase 4

IAGP

OMIM:263650 ORPHA:1234

HPO

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

RPL11

ribosomal protein L11

IAGP

ORPHA:124

HPO

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

IAGP

ORPHA:124

HPO

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

IAGP

ORPHA:124

HPO

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

IAGP

ORPHA:124

HPO

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

IAGP

ORPHA:124

HPO

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

IAGP

ORPHA:124

HPO

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

IAGP

ORPHA:124

HPO

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

IAGP

ORPHA:124

HPO

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

RPL5

ribosomal protein L5

IAGP

ORPHA:124

HPO

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

RPS10

ribosomal protein S10

IAGP

ORPHA:124

HPO

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

IAGP

ORPHA:124

HPO

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

IAGP

ORPHA:124

HPO

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

IAGP

ORPHA:124

HPO

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

IAGP

ORPHA:124

HPO

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

IAGP

ORPHA:124

HPO

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

IAGP

ORPHA:124

HPO

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

IAGP

ORPHA:124

HPO

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

IAGP

ORPHA:124

HPO

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

IAGP

ORPHA:124

HPO

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

RPS7

ribosomal protein S7

IAGP

ORPHA:124

HPO

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RSPO2

R-spondin 2

IAGP

OMIM:618022

HPO

NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642

SALL4

spalt like transcription factor 4

IAGP

OMIM:147750 OMIM:607323
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X

HPO
RGD

PMID:12843316

RGD:11556209

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

SF3B4

splicing factor 3b subunit 4

IAGP

OMIM:154400

HPO

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SLX4

SLX4 structure-specific endonuclease subunit

IAGP

OMIM:613951

HPO

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SON

SON DNA and RNA binding protein

IAGP

ORPHA:500150

HPO

NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481

TBX5

T-box transcription factor 5

IAGP

OMIM:142900 ORPHA:392

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TSR2

TSR2 ribosome maturation factor

IAGP

ORPHA:124

HPO

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

VAC14

VAC14 component of PIKFYVE complex

IAGP

ORPHA:3472

HPO

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

XRCC2

X-ray repair cross complementing 2

IAGP

OMIM:617247

HPO

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

Accessory carpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FLNA

filamin A

IAGP

OMIM:311300

HPO

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FLNB

filamin B

IAGP

OMIM:150250 ORPHA:503

HPO

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

Acral ulceration

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCT5

chaperonin containing TCP1 subunit 5

IAGP

OMIM:256840 ORPHA:139578

HPO

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

KIF1A

kinesin family member 1A

IAGP

OMIM:614213

HPO

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

MPV17

mitochondrial inner membrane protein MPV17

IAGP

OMIM:256810

HPO

NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680

NGF

nerve growth factor

IAGP

OMIM:608654

HPO

NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770

NTRK1

neurotrophic receptor tyrosine kinase 1

IAGP

OMIM:256800

HPO

NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850

RETREG1

reticulophagy regulator 1

IAGP

OMIM:201300 OMIM:613115

HPO

NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101

SCN9A

sodium voltage-gated channel alpha subunit 9

IAGP

OMIM:201300

HPO

NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001

SPTLC1

serine palmitoyltransferase long chain base subunit 1

IAGP

OMIM:162400

HPO

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

WNK1

WNK lysine deficient protein kinase 1

IAGP

OMIM:201300

HPO

NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452

Adactyly

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NEK1

NIMA related kinase 1

IAGP

ORPHA:2751

HPO

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

Adducted thumb

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCD1

ATP binding cassette subfamily D member 1

IAGP

ORPHA:388

HPO

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

ACTA1

actin alpha 1, skeletal muscle

IAGP

ORPHA:171430

HPO

NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104

ADGRG6

adhesion G protein-coupled receptor G6

IAGP

OMIM:616503

HPO

NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266

ALDH18A1

aldehyde dehydrogenase 18 family member A1

IAGP

OMIM:219150 OMIM:616603 ORPHA:90348

HPO

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ALG13

ALG13 UDP-N-acetylglucosaminyltransferase subunit

IAGP

ORPHA:324422

HPO

NCBI chr X:111,681,170...111,760,649
Ensembl chr X:111,665,811...111,760,649

ALG3

ALG3 alpha-1,3- mannosyltransferase

IAGP

OMIM:601110

HPO

NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548

ANKLE2

ankyrin repeat and LEM domain containing 2

IAGP

OMIM:616681

HPO

NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832

AP4M1

adaptor related protein complex 4 subunit mu 1

IAGP

OMIM:612936

HPO

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345

ATAD1

ATPase family AAA domain containing 1

IAGP

OMIM:618011

HPO

NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361

ATP7A

ATPase copper transporting alpha

IAGP

ORPHA:388

HPO

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

B3GALT6

beta-1,3-galactosyltransferase 6

IAGP

ORPHA:536467

HPO

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

BAZ1B

bromodomain adjacent to zinc finger domain 1B

IAGP

ORPHA:904

HPO

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BCL7B

BAF chromatin remodeling complex subunit BCL7B

IAGP

ORPHA:904

HPO

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

BLTP1

bridge-like lipid transfer protein family member 1

IAGP

OMIM:617822

HPO

NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

IAGP

ORPHA:904

HPO

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

CHST11

carbohydrate sulfotransferase 11

IAGP

OMIM:618167

HPO

NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014

CHST14

carbohydrate sulfotransferase 14

IAGP

OMIM:601776

HPO

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

CLIP2

CAP-Gly domain containing linker protein 2

IAGP

ORPHA:904

HPO

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COG7

component of oligomeric golgi complex 7

IAGP

OMIM:608779

HPO

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

COL12A1

collagen type XII alpha 1 chain

IAGP

ORPHA:536516

HPO

NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267

COL6A1

collagen type VI alpha 1 chain

IAGP

ORPHA:75840

HPO

NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050

COL6A2

collagen type VI alpha 2 chain

IAGP

ORPHA:75840

HPO

NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848

COL6A3

collagen type VI alpha 3 chain

IAGP

ORPHA:75840

HPO

NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328

CREBBP

CREB binding protein

IAGP

ORPHA:353277

HPO

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CRLF1

cytokine receptor like factor 1

IAGP

OMIM:272430

HPO

NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741

CRPPA

CDP-L-ribitol pyrophosphorylase A

IAGP

OMIM:614643

HPO

NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504

DLK1

delta like non-canonical Notch ligand 1

IAGP

ORPHA:96334

HPO

NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

IAGP

ORPHA:904

HPO

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DPH2

diphthamide biosynthesis 2

IAGP

OMIM:620062

HPO

NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369

DSE

dermatan sulfate epimerase

IAGP

OMIM:615539

HPO

NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861

ECE1

endothelin converting enzyme 1

IAGP

ORPHA:388

HPO

NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572

ECEL1

endothelin converting enzyme like 1

IAGP

OMIM:615065

HPO

NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834

EDN3

endothelin 3

IAGP

ORPHA:388

HPO

NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992

EDNRB

endothelin receptor type B

IAGP

ORPHA:388

HPO

NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529

EIF4H

eukaryotic translation initiation factor 4H

IAGP

ORPHA:904

HPO

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

ELN

elastin

IAGP

ORPHA:904

HPO

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

EP300

E1A binding protein p300

IAGP

ORPHA:353284

HPO

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077

EPB41L1

erythrocyte membrane protein band 4.1 like 1

IAGP

OMIM:614257

HPO

NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799

ERBB2

erb-b2 receptor tyrosine kinase 2

IAGP

ORPHA:388

HPO

NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426

ERBB3

erb-b2 receptor tyrosine kinase 3

IAGP

ORPHA:388

HPO

NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

IAGP

OMIM:610758

HPO

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

EXOSC9

exosome component 9

IAGP

OMIM:618065

HPO

NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021

FBLN5

fibulin 5

IAGP

ORPHA:90348

HPO

NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987

FBN1

fibrillin 1

IAGP

ORPHA:284979

HPO

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

FBN2

fibrillin 2

IAGP

OMIM:121050

HPO

NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

IAGP

ORPHA:904

HPO

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

GDNF

glial cell derived neurotrophic factor

IAGP

ORPHA:388

HPO

NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041

GNB1

G protein subunit beta 1

IAGP

OMIM:616973

HPO

NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292

GPKOW

G-patch domain and KOW motifs

IAGP

ORPHA:2570

HPO

NCBI chr X:49,113,407...49,123,735
Ensembl chr X:49,113,407...49,123,735

GTF2I

general transcription factor IIi

IAGP

ORPHA:904

HPO

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

IAGP

ORPHA:904

HPO

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

IAGP

ORPHA:904

HPO

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

KATNB1

katanin regulatory subunit B1

IAGP

ORPHA:89844

HPO

NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244

KCNH1

potassium voltage-gated channel subfamily H member 1

IAGP

OMIM:611816

HPO

NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165

KLHL40

kelch like family member 40

IAGP

ORPHA:171430

HPO

NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544

KLHL41

kelch like family member 41

IAGP

ORPHA:171430

HPO

NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258

L1CAM

L1 cell adhesion molecule

IAGP

OMIM:303350 OMIM:307000 ORPHA:2182 ORPHA:306617
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel

HPO
RGD

PMID:7920660

RGD:6483061

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

LAGE3

L antigen family member 3

IAGP

ORPHA:2065

HPO

NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281

LIFR

LIF receptor subunit alpha

IAGP

OMIM:601559

HPO

NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354

LIMK1

LIM domain kinase 1

IAGP

ORPHA:904

HPO

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LMOD3

leiomodin 3

IAGP

ORPHA:171430

HPO

NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032

MED25

mediator complex subunit 25

IAGP

ORPHA:464738

HPO

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MEG3

maternally expressed 3

IAGP

ORPHA:96334

HPO

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031

METTL27

methyltransferase like 27

IAGP

ORPHA:904

HPO

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

MLXIPL

MLX interacting protein like

IAGP

ORPHA:904

HPO

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

MSL3

MSL complex subunit 3

IAGP

OMIM:301032

HPO

NCBI chr X:11,758,159...11,775,772
Ensembl chr X:11,758,159...11,775,772

MYBPC1

myosin binding protein C1

IAGP

ORPHA:1146

HPO

NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028

MYH3

myosin heavy chain 3

IAGP

OMIM:193700 OMIM:618436 ORPHA:1146 ORPHA:1147

HPO

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

MYL11

myosin light chain 11

IAGP

OMIM:619110

HPO

NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991

NALCN

sodium leak channel, non-selective

IAGP

OMIM:616266 ORPHA:1146 ORPHA:1147

HPO

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

NCF1

neutrophil cytosolic factor 1

IAGP

ORPHA:904

HPO

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDE1

nudE neurodevelopment protein 1

IAGP

ORPHA:89844

HPO

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NEB

nebulin

IAGP

OMIM:619334

HPO

NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487

NEK9

NIMA related kinase 9

IAGP

OMIM:617022

HPO

NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344

NRTN

neurturin

IAGP

ORPHA:388

HPO

NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324

NUP107

nucleoporin 107

IAGP

ORPHA:2065

HPO

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

NUP133

nucleoporin 133

IAGP

ORPHA:2065

HPO

NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341

OSGEP

O-sialoglycoprotein endopeptidase

IAGP

ORPHA:2065

HPO

NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089

PCGF2

polycomb group ring finger 2

IAGP

OMIM:618371

HPO

NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817

PHGDH

phosphoglycerate dehydrogenase

IAGP

OMIM:601815 ORPHA:79351

HPO

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y

IAGP

OMIM:616809

HPO

NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776

RBM8A

RNA binding motif protein 8A

IAGP

OMIM:274000 ORPHA:3320

HPO

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RELN

reelin

IAGP

ORPHA:89844

HPO

NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658

RET

ret proto-oncogene

IAGP

ORPHA:388

HPO

NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351

RFC2

replication factor C subunit 2

IAGP

ORPHA:904

HPO

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

RFT1

RFT1 homolog

IAGP

OMIM:612015

HPO

NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453

RTL1

retrotransposon Gag like 1

IAGP

ORPHA:96334

HPO

NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722

SEMA3C

semaphorin 3C

IAGP

ORPHA:388

HPO

NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359

SEMA3D

semaphorin 3D

IAGP

ORPHA:388

HPO

NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056

SHMT2

serine hydroxymethyltransferase 2

IAGP

OMIM:619121

HPO

NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935

SLC9A6

solute carrier family 9 member A6

IAGP

OMIM:300243 ORPHA:85278

HPO

NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269

SMO

smoothened, frizzled class receptor

IAGP

ORPHA:388

HPO

NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545

SMPD4

sphingomyelin phosphodiesterase 4

IAGP

OMIM:618622

HPO

NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750

SREBF1

sterol regulatory element binding transcription factor 1

IAGP

ORPHA:388

HPO

NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002

STUB1

STIP1 homology and U-box containing protein 1

IAGP

ORPHA:412057

HPO

NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870

STX1A

syntaxin 1A

IAGP

ORPHA:904

HPO

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

SYNE1

spectrin repeat containing nuclear envelope protein 1

IAGP

ORPHA:319332

HPO

NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801

TAPT1

transmembrane anterior posterior transformation 1

IAGP

OMIM:616897

HPO

NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410

TBL2

transducin beta like 2

IAGP

ORPHA:904

HPO

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TMEM270

transmembrane protein 270

IAGP

ORPHA:904

HPO

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

TNNI2

troponin I2, fast skeletal type

IAGP

ORPHA:1146 ORPHA:1147

HPO

NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680

TNNT3

troponin T3, fast skeletal type

IAGP

OMIM:618435 ORPHA:1146 ORPHA:1147

HPO

NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706

TOR1A

torsin family 1 member A

IAGP

OMIM:618947

HPO

NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244

TP53RK

TP53 regulating kinase

IAGP

ORPHA:2065

HPO

NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444

TPM2

tropomyosin 2

IAGP

OMIM:108120 ORPHA:1146 ORPHA:1147

HPO

NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056

TPRKB

TP53RK binding protein

IAGP

ORPHA:2065

HPO

NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400

VPS37D

VPS37D subunit of ESCRT-I

IAGP

ORPHA:904

HPO

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

WDR4

WD repeat domain 4

IAGP

ORPHA:2065

HPO

NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568

WDR73

WD repeat domain 73

IAGP

ORPHA:2065

HPO

NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343

ZEB2

zinc finger E-box binding homeobox 2

IAGP

ORPHA:261552

HPO

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

Advanced ossification of carpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

B3GALT6

beta-1,3-galactosyltransferase 6

IAGP

OMIM:271640 OMIM:615349

HPO

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

CANT1

calcium activated nucleotidase 1

IAGP

OMIM:617719

HPO

NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867

PTH1R

parathyroid hormone 1 receptor

IAGP

OMIM:215045

HPO

NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799

SETD2

SET domain containing 2, histone lysine methyltransferase

IAGP

OMIM:616831

HPO

NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113

SLC10A7

solute carrier family 10 member 7

IAGP

OMIM:618363

HPO

NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372

SLC35D1

solute carrier family 35 member D1

IAGP

OMIM:269250

HPO

NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148

XYLT1

xylosyltransferase 1

IAGP

OMIM:615777

HPO

NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960

Angel-shaped phalanx

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GDF5

growth differentiation factor 5

IAGP

OMIM:113100

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

IFT52

intraflagellar transport 52

IAGP

OMIM:617102

HPO

NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299

Angulated humerus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CREB3L1

cAMP responsive element binding protein 3 like 1

IAGP

OMIM:616229

HPO

NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409

Anterior radial head dislocation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

IFITM5

interferon induced transmembrane protein 5

IAGP

OMIM:610967

HPO

NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526

Anterolateral radial head dislocation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GPC6

glypican 6

IAGP

OMIM:258315

HPO

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

Aphalangy of the hands

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RECQL4

RecQ like helicase 4

IAGP

OMIM:218600

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

Aplasia of metacarpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

OMIM:200500

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

RECQL4

RecQ like helicase 4

IAGP

OMIM:218600

HPO

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

SALL4

spalt like transcription factor 4

IAGP

OMIM:607323

HPO

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

Aplasia of the 1st metacarpal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FANCD2

FA complementation group D2

IAGP

OMIM:227646

HPO

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FIG4

FIG4 phosphoinositide 5-phosphatase

IAGP

ORPHA:3472

HPO

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

LMBR1

limb development membrane protein 1

IAGP

ORPHA:93321

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

SHH

sonic hedgehog signaling molecule

IAGP

ORPHA:93321

HPO

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

TRIO

trio Rho guanine nucleotide exchange factor

IAGP

ORPHA:476126

HPO

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

VAC14

VAC14 component of PIKFYVE complex

IAGP

ORPHA:3472

HPO

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

XRCC2

X-ray repair cross complementing 2

IAGP

OMIM:617247

HPO

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

Aplasia of the 2nd metacarpal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GLI3

GLI family zinc finger 3

IAGP

ORPHA:93322

HPO

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

Aplasia of the 3rd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EN1

engrailed homeobox 1

IAGP

OMIM:619218

HPO

NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the 3rd metacarpal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the 4th finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the 4th metacarpal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GLI3

GLI family zinc finger 3

IAGP

ORPHA:93322

HPO

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the 5th finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the 5th metacarpal

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

Aplasia of the distal phalanges of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FIG4

FIG4 phosphoinositide 5-phosphatase

IAGP

ORPHA:3472

HPO

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

VAC14

VAC14 component of PIKFYVE complex

IAGP

ORPHA:3472

HPO

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

Aplasia of the distal phalanx of the 2nd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FIG4

FIG4 phosphoinositide 5-phosphatase

IAGP

OMIM:216340

HPO

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

NSDHL

NAD(P) dependent steroid dehydrogenase-like

IAGP

OMIM:308050

HPO

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

Aplasia of the distal phalanx of the 3rd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NSDHL

NAD(P) dependent steroid dehydrogenase-like

IAGP

OMIM:308050

HPO

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

Aplasia of the middle phalanx of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMNA

lamin A/C

IAGP

OMIM:610140

HPO

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081

MEGF8

multiple EGF like domains 8

IAGP

OMIM:614976

HPO

NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769

Aplasia of the pectoralis major muscle

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MYMK

myomaker, myoblast fusion factor

IAGP

ORPHA:1358

HPO

NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612

MYMX

myomixer, myoblast fusion factor

IAGP

ORPHA:1358

HPO

NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234

PLXND1

plexin D1

IAGP

ORPHA:570

HPO

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

IAGP

ORPHA:570

HPO

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

TBX3

T-box transcription factor 3

IAGP

ORPHA:3138

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

OMIM:142900

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Aplasia of the phalanges of the hand

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

OMIM:200500

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

Aplasia of the proximal phalanx of the 2nd finger

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BMPR1B

bone morphogenetic protein receptor type 1B

IAGP

OMIM:609441

HPO

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

Aplasia of the ulna

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LMBR1

limb development membrane protein 1

IAGP

OMIM:200500 ORPHA:931

HPO

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

TBX3

T-box transcription factor 3

IAGP

OMIM:181450

HPO

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TBX5

T-box transcription factor 5

IAGP

OMIM:142900

HPO

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

WNT7A

Wnt family member 7A

IAGP

OMIM:276820 ORPHA:2879

HPO

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

Aplasia/hypoplasia involving bones of the upper limbs

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SALL4

spalt like transcription factor 4

IAGP

DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X

RGD

PMID:12843316

RGD:11556209

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

Aplasia/Hypoplasia involving the carpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

WNT7A

Wnt family member 7A

IAGP

OMIM:276820

HPO

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

Aplasia/Hypoplasia involving the metacarpal bones

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BMPR1B

bone morphogenetic protein receptor type 1B

IAGP

ORPHA:2098

HPO

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

GDF5

growth differentiation factor 5

IAGP

OMIM:200700 ORPHA:2098

HPO

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

PLXND1

plexin D1

IAGP

ORPHA:570

HPO

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

IAGP

ORPHA:570

HPO

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

ROR2

receptor tyrosine kinase like orphan receptor 2

IAGP

OMIM:268310

HPO

NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228

TP63

tumor protein p63

IAGP

OMIM:605289

HPO

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

WNT7A

Wnt family member 7A

IAGP

OMIM:228930 OMIM:276820

HPO

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

Aplasia/Hypoplasia of fingers

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BRCA1

BRCA1 DNA repair associated

IAGP

ORPHA:84

HPO

NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

IAGP

ORPHA:84

HPO

NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting helicase 1

IAGP

ORPHA:84

HPO

NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

IAGP

ORPHA:84

HPO

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

FANCA

FA complementation group A

IAGP

ORPHA:84

HPO

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

IAGP

ORPHA:84

HPO

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

IAGP

ORPHA:84

HPO

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

IAGP

ORPHA:84

HPO

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

IAGP

ORPHA:84

HPO

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

IAGP

ORPHA:84

HPO

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCG

FA complementation group G

IAGP

ORPHA:84

HPO

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FANCI

FA complementation group I

IAGP

ORPHA:84

HPO

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

IAGP

ORPHA:84

HPO

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FANCM

FA complementation group M

IAGP

ORPHA:84

HPO

NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890

MAD2L2

mitotic arrest deficient 2 like 2

IAGP

ORPHA:84

HPO

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811

PALB2

partner and localizer of BRCA2

IAGP

ORPHA:84

HPO

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

RAD51

RAD51 recombinase

IAGP

ORPHA:84

HPO

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51C

RAD51 paralog C

IAGP

ORPHA:84

HPO

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RFWD3

ring finger and WD repeat domain 3

IAGP

ORPHA:84

HPO

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

SLX4

SLX4 structure-specific endonuclease subunit

IAGP

ORPHA:84

HPO

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

UBE2T

ubiquitin conjugating enzyme E2 T

IAGP

ORPHA:84

HPO

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

XRCC2

X-ray repair cross complementing 2

IAGP

ORPHA:84

HPO

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

Aplasia/Hypoplasia of the 1st metacarpal

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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HUMAN PHENOTYPE - ANNOTATIONS