Abdominal symptom - Ontology Report

ORPHA:99879

NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815

GCM2

glial cells missing transcription factor 2

ORPHA:99879

NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041

GNAS

GNAS complex locus

ORPHA:79443 ORPHA:79444 ORPHA:94089

NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192

MEN1

menin 1

ORPHA:99879

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

PRNP

prion protein

ORPHA:280397

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

STX16

syntaxin 16

ORPHA:94089

NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526

Abdominal colic

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCB4

ATP binding cassette subfamily B member 4

ORPHA:69663

NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435

aminolevulinate dehydratase

OMIM:612740

NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290

APRT

adenine phosphoribosyltransferase

ORPHA:976

NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937

DGAT1

diacylglycerol O-acyltransferase 1

OMIM:615863

NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910

sucrase-isomaltase

ORPHA:35122

NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496

Abdominal cramps

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASXL1

ASXL transcriptional regulator 1

ORPHA:98850

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

CBL

Cbl proto-oncogene

ORPHA:98850

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

POLG

DNA polymerase gamma, catalytic subunit

OMIM:603041

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

RUNX1

RUNX family transcription factor 1

ORPHA:98850

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

SRSF2

serine and arginine rich splicing factor 2

ORPHA:98850

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

TET2

tet methylcytosine dioxygenase 2

ORPHA:98850

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TYMP

thymidine phosphorylase

OMIM:603041

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

Abdominal distention

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTG2

actin gamma 2, smooth muscle

OMIM:155310 ORPHA:2241 ORPHA:2604

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

ADPRS

ADP-ribosylserine hydrolase

ClinVar Annotator: match by term: Belly bloating

NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932

aminolevulinate dehydratase

ORPHA:100924

NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290

ALDOB

aldolase, fructose-bisphosphate B

ORPHA:469

NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664

ALG8

ALG8 alpha-1,3-glucosyltransferase

OMIM:608104

NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660

ANK1

ankyrin 1

ORPHA:822

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

ANO1

anoctamin 1

OMIM:620045

NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530

ARSA

arylsulfatase A

ORPHA:309256 ORPHA:309263 ORPHA:309271

NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

ORPHA:2131

NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

ORPHA:2131

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

ATP7B

ATPase copper transporting beta

OMIM:277900

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

BRCA1 DNA repair associated

ORPHA:168829

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

C2orf69

chromosome 2 open reading frame 69

OMIM:619423

NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ORPHA:2131

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025

CLMP

CXADR like membrane protein

OMIM:615237

NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248

COL2A1

collagen type II alpha 1 chain

ORPHA:85166

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

DDRGK1

DDRGK domain containing 1

OMIM:602557 ORPHA:93352

NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685

DHCR7

7-dehydrocholesterol reductase

OMIM:270400

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

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

ORPHA:93271

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

DYNC2I1

dynein 2 intermediate chain 1

ORPHA:93271

NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747

DYNC2I2

dynein 2 intermediate chain 2

ORPHA:93271

NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847

EPB42

erythrocyte membrane protein band 4.2

ORPHA:822

NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018

EPCAM

epithelial cell adhesion molecule

ORPHA:92050

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

EPHB4

EPH receptor B4

OMIM:617300

NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523

EWSR1

EWS RNA binding protein 1

ORPHA:83469

NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ORPHA:370348

NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267

FLNA

filamin A

OMIM:300048

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

FOCAD

focadhesin

OMIM:619991

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

FOXE1

forkhead box E1

ORPHA:95713

NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717

FREM2

FRAS1 related extracellular matrix 2

OMIM:617666

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

FSHR

follicle stimulating hormone receptor

ORPHA:64739

NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527

HLA-DQA1

major histocompatibility complex, class II, DQ alpha 1

OMIM:212750

NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

OMIM:212750

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

HMBS

hydroxymethylbilane synthase

ORPHA:79276

NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834

IFT80

intraflagellar transport 80

ORPHA:93271

NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880

IL12A

interleukin 12A

ORPHA:186

NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019

IL12RB1

interleukin 12 receptor subunit beta 1

ORPHA:186

NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944

INSR

insulin receptor

OMIM:246200

NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414

IPO8

importin 8

OMIM:619472

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

IRAK1

interleukin 1 receptor associated kinase 1

ORPHA:93552

NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902

IRF5

interferon regulatory factor 5

ORPHA:186

NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038

ITGA6

integrin subunit alpha 6

ORPHA:79403

NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,427,354...172,506,459

ITGB4

integrin subunit beta 4

ORPHA:158684

NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818

KRT18

keratin 18

OMIM:215600

NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906

LIG3

DNA ligase 3

ORPHA:298

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

LIPA

lipase A, lysosomal acid type

ORPHA:75233

NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557

LMOD1

leiomodin 1

ORPHA:2241

NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,588

LRP5

LDL receptor related protein 5

ORPHA:2924

NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275

LYSET

lysosomal enzyme trafficking factor

OMIM:619345

NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463

MMEL1

membrane metalloendopeptidase like 1

ORPHA:186

NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016

MNX1

motor neuron and pancreas homeobox 1

OMIM:176450

NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663

MPV17

mitochondrial inner membrane protein MPV17

OMIM:256810

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

MYH11

myosin heavy chain 11

ORPHA:2241

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028

MYL9

myosin light chain 9

OMIM:619365

NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447

MYLK

myosin light chain kinase

ORPHA:2241

NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332

MYO5B

myosin VB

ORPHA:2290

NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164

NKX2-1

NK2 homeobox 1

ORPHA:95713

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NKX2-5

NK2 homeobox 5

ORPHA:95712 ORPHA:95713

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NPHS1

NPHS1 adhesion molecule, nephrin

OMIM:256300

NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287

PAX8

paired box 8

OMIM:218700 ORPHA:95712 ORPHA:95713 ORPHA:95720

NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921

PERCC1

proline and glutamate rich with coiled coil 1

ORPHA:92050

NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441

PHKA2

phosphorylase kinase regulatory subunit alpha 2

associated with glycogen storage disease IXa;DNA:mutations:multiple

RGD

PMID:28627441

RGD:26884355

NCBI chr X:18,892,298...18,984,114
Ensembl chr X:18,892,298...18,984,114

PI4KA

phosphatidylinositol 4-kinase alpha

ORPHA:436252

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

PLEC

plectin

ORPHA:158684

NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734

POLG

DNA polymerase gamma, catalytic subunit

OMIM:613662 ORPHA:298

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

POLG2

DNA polymerase gamma 2, accessory subunit

OMIM:618528

NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054

POU2AF1

POU class 2 homeobox associating factor 1

ORPHA:186

NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630

PRKCSH

protein kinase C substrate 80K-H

OMIM:174050 ORPHA:2924

NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968

PSAP

prosaposin

ORPHA:309256 ORPHA:309263 ORPHA:309271

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PYGL

glycogen phosphorylase L

ORPHA:369

NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483

RET

ret proto-oncogene

OMIM:142623

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

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:298

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

SAR1B

secretion associated Ras related GTPase 1B

ORPHA:71

NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271

SEC63

SEC63 homolog, protein translocation regulator

ORPHA:2924

NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208

sucrase-isomaltase

ORPHA:35122

NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496

SLC1A3

solute carrier family 1 member 3

ORPHA:2131

NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334

SLC26A2

solute carrier family 26 member 2

OMIM:600972

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

SLC26A3

solute carrier family 26 member 3

OMIM:214700

NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225

SLC26A4

solute carrier family 26 member 4

ORPHA:95713 ORPHA:95720

NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809

SLC2A2

solute carrier family 2 member 2

OMIM:227810

NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

ORPHA:822

NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141

SLC5A1

solute carrier family 5 member 1

OMIM:606824

NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029

SLC9A3

solute carrier family 9 member A3

OMIM:616868

NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449

SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ORPHA:1830

NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053

SPIB

Spi-B transcription factor

ORPHA:186

NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314

SPINT2

serine peptidase inhibitor, Kunitz type 2

OMIM:270420

NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615

SPP1

secreted phosphoprotein 1

ORPHA:93552

NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532

SPTA1

spectrin alpha, erythrocytic 1

ORPHA:822

NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715

SPTB

spectrin beta, erythrocytic

ORPHA:822

NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907

STAT4

signal transducer and activator of transcription 4

ORPHA:93552

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

STX3

syntaxin 3

ORPHA:2290

NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882

TCTN2

tectonic family member 2

OMIM:613885

NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399

TNFSF15

TNF superfamily member 15

ORPHA:186

NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039

TNPO3

transportin 3

ORPHA:186

NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173

TREH

trehalase

ORPHA:103909

NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690

TRIP11

thyroid hormone receptor interactor 11

ORPHA:93299

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

TRMU

tRNA mitochondrial 2-thiouridylase

OMIM:613070
DNA:mutations:multiple

HPO
RGD

PMID:19732863

RGD:25440486

NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340

TSHR

thyroid stimulating hormone receptor

ORPHA:95713 ORPHA:95720

NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306

TTC26

tetratricopeptide repeat domain 26

OMIM:619534

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

TTC7A

tetratricopeptide repeat domain 7A

ORPHA:436252

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

TYMP

thymidine phosphorylase

ORPHA:298

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

WDR35

WD repeat domain 35

ORPHA:93271

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WT1

WT1 transcription factor

ORPHA:83469

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

ZEB2

zinc finger E-box binding homeobox 2

OMIM:235730

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

Abdominal pain

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA1

ATP binding cassette subfamily A member 1

ORPHA:31150

NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155

ABCB11

ATP binding cassette subfamily B member 11

ORPHA:69665

NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324

ABCB4

ATP binding cassette subfamily B member 4

ORPHA:69665

NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435

ABCC2

ATP binding cassette subfamily C member 2

ORPHA:234

NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594

ABCD1

ATP binding cassette subfamily D member 1

ORPHA:388

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

ABCG8

ATP binding cassette subfamily G member 8

OMIM:210250

NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988

ACTG2

actin gamma 2, smooth muscle

OMIM:155310

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

ACTN4

actinin alpha 4

ORPHA:656

NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589

ADA2

adenosine deaminase 2

OMIM:615688

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

aminolevulinate dehydratase

ORPHA:100924

NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290

ALDH4A1

aldehyde dehydrogenase 4 family member A1

ORPHA:79101

NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724

ALDOB

aldolase, fructose-bisphosphate B

OMIM:229600 ORPHA:469

NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664

ANK1

ankyrin 1

ORPHA:822

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

ANKFY1

ankyrin repeat and FYVE domain containing 1

ORPHA:656

NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995

ANLN

anillin, actin binding protein

ORPHA:656

NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791

APC

APC regulator of WNT signaling pathway

OMIM:619182 ORPHA:873 ORPHA:99818

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

APOL1

apolipoprotein L1

ORPHA:656

NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530

APRT

adenine phosphoribosyltransferase

OMIM:614723

NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937

ARHGAP24

Rho GTPase activating protein 24

ORPHA:656

NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668

ARHGDIA

Rho GDP dissociation inhibitor alpha

ORPHA:656

NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378

ASXL1

ASXL transcriptional regulator 1

ORPHA:98849

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ATP7A

ATPase copper transporting alpha

ORPHA:388

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

ATP8B1

ATPase phospholipid transporting 8B1

ORPHA:69665

NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315

BAZ1B

bromodomain adjacent to zinc finger domain 1B

ORPHA:904

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

BCL10

BCL10 immune signaling adaptor

ORPHA:52417

NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632

BCL11A

BCL11 transcription factor A

ORPHA:251380

NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467

BCL7B

BAF chromatin remodeling complex subunit BCL7B

ORPHA:904

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

BCOR

BCL6 corepressor

ORPHA:520

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

BIRC3

baculoviral IAP repeat containing 3

ORPHA:52417

NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403

BMP2

bone morphogenetic protein 2

OMIM:235200

NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246

BMP6

bone morphogenetic protein 6

ORPHA:465508

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

BMPR1A

bone morphogenetic protein receptor type 1A

OMIM:174900 ORPHA:440437 ORPHA:79076

NCBI chr10:86,755,763...86,927,969
Ensembl chr10:86,756,601...86,932,825

BRCA1 DNA repair associated

ORPHA:1333 ORPHA:168829 ORPHA:70567

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

ORPHA:1333 ORPHA:654 ORPHA:70567

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

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

ORPHA:904

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161

C4A

complement C4A (Rodgers blood group)

ORPHA:117

NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681

CALR

calreticulin

ORPHA:131

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

CARD8

caspase recruitment domain family member 8

OMIM:619079

NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946

CASK

calcium/calmodulin dependent serine protein kinase

OMIM:300908

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

CASR

calcium sensing receptor

ORPHA:428 ORPHA:676

NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629

CCND1

cyclin D1

ORPHA:892

NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474

CCR1

C-C motif chemokine receptor 1

ORPHA:117

NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313

CD2AP

CD2 associated protein

ORPHA:656

NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263

CD46

CD46 molecule

ORPHA:244242

NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513

CD55

CD55 molecule (Cromer blood group)

OMIM:226300

NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804

CDKN1A

cyclin dependent kinase inhibitor 1A

ORPHA:652

NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337

CDKN1B

cyclin dependent kinase inhibitor 1B

ORPHA:652

NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369

CDKN2A

cyclin dependent kinase inhibitor 2A

ORPHA:1333

NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301

CDKN2B

cyclin dependent kinase inhibitor 2B

ORPHA:652

NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305

CDKN2C

cyclin dependent kinase inhibitor 2C

ORPHA:652

NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634

CEBPE

CCAAT enhancer binding protein epsilon

OMIM:260570

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

CEL

carboxyl ester lipase

OMIM:609812

NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861

CFH

complement factor H

ORPHA:244242

NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476

CFI

complement factor I

ORPHA:244242

NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150

CFTR

CF transmembrane conductance regulator

OMIM:167800 ORPHA:676

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

CLCNKB

chloride voltage-gated channel Kb

ORPHA:358

NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311

CLDN16

claudin 16

OMIM:248250

NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138

CLIP2

CAP-Gly domain containing linker protein 2

ORPHA:904

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

CLPB

caseinolytic mitochondrial matrix peptidase chaperone subunit B

ORPHA:486

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

COL4A3

collagen type IV alpha 3 chain

ORPHA:656

NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792

COQ8B

coenzyme Q8B

ORPHA:656

NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784

CORIN

corin, serine peptidase

ORPHA:275555

NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106

CPA1

carboxypeptidase A1

ORPHA:676

NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114

CPOX

coproporphyrinogen oxidase

PMID:12181641 PMID:15896662

OMIM:121300 ORPHA:79273
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple

HPO
RGD

RGD:25671430, RGD:25671429

NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648

CRB2

crumbs cell polarity complex component 2

ORPHA:656

NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324

CTLA4

cytotoxic T-lymphocyte associated protein 4

ORPHA:900

NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965

CTNNB1

catenin beta 1

ORPHA:1501 ORPHA:33402 ORPHA:873

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

CTRC

chymotrypsin C

OMIM:167800 ORPHA:676

NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242

DAAM2

dishevelled associated activator of morphogenesis 2

ORPHA:656

NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877

DDIT3

DNA damage inducible transcript 3

ORPHA:99967

NCBI chr12:57,516,588...57,521,698
Ensembl chr12:57,516,588...57,521,737

DIS3L2

DIS3 like 3'-5' exoribonuclease 2

ORPHA:654

NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350

DMPK

DM1 protein kinase

ORPHA:589821

NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

ORPHA:904

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

DNASE1L3

deoxyribonuclease 1 like 3

ORPHA:36412

NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697

ECE1

endothelin converting enzyme 1

ORPHA:388

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

EDN3

endothelin 3

ORPHA:388 ORPHA:897

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

EDNRB

endothelin receptor type B

ORPHA:388 ORPHA:897

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

EIF4H

eukaryotic translation initiation factor 4H

ORPHA:904

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

ELANE

elastase, neutrophil expressed

ORPHA:2686 ORPHA:486

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

ELF4

E74 like ETS transcription factor 4

OMIM:301074

NCBI chr X:130,063,955...130,111,927
Ensembl chr X:130,063,955...130,110,716

ELN

elastin

ORPHA:904

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

EMP2

epithelial membrane protein 2

ORPHA:656

NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632

EPB41

erythrocyte membrane protein band 4.1

ORPHA:288

NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046

EPB42

erythrocyte membrane protein band 4.2

ORPHA:822

NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018

EPCAM

epithelial cell adhesion molecule

ORPHA:144

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

EPOR

erythropoietin receptor

ORPHA:90042

NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342

ERAP1

endoplasmic reticulum aminopeptidase 1

ORPHA:117

NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100

ERBB2

erb-b2 receptor tyrosine kinase 2

ORPHA:388

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

ERBB3

erb-b2 receptor tyrosine kinase 3

ORPHA:388

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

EWSR1

EWS RNA binding protein 1

ORPHA:83469

NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525

coagulation factor V

ORPHA:131

NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588

FAN1

FANCD2 and FANCI associated nuclease 1

ORPHA:144

NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108

FAS

Fas cell surface death receptor

ORPHA:117

NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605

FGF13

fibroblast growth factor 13

OMIM:301058

NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777

FIP1L1

factor interacting with PAPOLA and CPSF1

ORPHA:520

NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

ORPHA:904

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

FLT1

fms related receptor tyrosine kinase 1

ORPHA:275555

NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145

FOXP1

forkhead box P1

ORPHA:52417

NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978

FSHR

follicle stimulating hormone receptor

OMIM:608115 ORPHA:64739

NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527

FUS

FUS RNA binding protein

ORPHA:99967

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605

G6PD

glucose-6-phosphate dehydrogenase

OMIM:300908

NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572

GAPVD1

GTPase activating protein and VPS9 domains 1

ORPHA:656

NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207

GBA1

glucosylceramidase beta 1

ORPHA:77259

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GCGR

glucagon receptor

ORPHA:438274

NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008

GDNF

glial cell derived neurotrophic factor

ORPHA:388

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

GFI1

growth factor independent 1 transcriptional repressor

ORPHA:486

NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925

GHSR

growth hormone secretagogue receptor

ORPHA:314811

NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456

GLA

galactosidase alpha

OMIM:301500 ORPHA:324

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

GNA11

G protein subunit alpha 11

ORPHA:428

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

GPC3

glypican 3

ORPHA:654

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

GPR35

G protein-coupled receptor 35

ORPHA:171

NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159

GTF2I

general transcription factor IIi

ORPHA:904

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

GTF2IRD1

GTF2I repeat domain containing 1

ORPHA:904

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

GTF2IRD2

GTF2I repeat domain containing 2

ORPHA:904

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

GUCY2C

guanylate cyclase 2C

OMIM:614616

NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599

GYPC

glycophorin C (Gerbich blood group)

ORPHA:288

NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667

H19

H19 imprinted maternally expressed transcript

ORPHA:654

NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,001,470

HBB

hemoglobin subunit beta

OMIM:603903 ORPHA:251380 ORPHA:90039

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

HBG1

hemoglobin subunit gamma 1

ORPHA:251380

NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857

HBG2

hemoglobin subunit gamma 2

ORPHA:251380

NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605

HELLPAR

HELLP associated long non-coding RNA

ORPHA:244242

Ensembl chr12:102,197,585...102,402,596

HFE

homeostatic iron regulator

OMIM:176200 OMIM:235200 ORPHA:465508
ClinVar Annotator: match by term: Abdominal pain

HPO
ClinVar

PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More...

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

HLA-B

major histocompatibility complex, class I, B

ORPHA:117 ORPHA:29207 ORPHA:36426 ORPHA:397

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HLA-DPA1

major histocompatibility complex, class II, DP alpha 1

ORPHA:900

NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775

HLA-DPB1

major histocompatibility complex, class II, DP beta 1

ORPHA:900

NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696

HLA-DQA1

major histocompatibility complex, class II, DQ alpha 1

OMIM:212750

NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

OMIM:212750

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

ORPHA:397

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

HMBS

hydroxymethylbilane synthase

OMIM:176000 ORPHA:79276
ClinVar Annotator: match by term: Abdominal pain
ClinVar Annotator: match by term: Pain in stomach

HPO
ClinVar

PMID:25741868

NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834

HPS1

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

OMIM:203300

NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963

HS3ST6

heparan sulfate-glucosamine 3-sulfotransferase 6

OMIM:619367

NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415

IFNGR1

interferon gamma receptor 1

ORPHA:117

NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449

IGH

immunoglobulin heavy locus

ORPHA:52417

NCBI chr14:105,586,437...106,879,844

IKZF1

IKAROS family zinc finger 1

ORPHA:36426

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

IL10

interleukin 10

ORPHA:117

NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541

IL12A

interleukin 12A

ORPHA:117

NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019

IL12A-AS1

IL12A antisense RNA 1

ORPHA:117

NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299

IL23R

interleukin 23 receptor

ORPHA:117

NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979

IL6

interleukin 6

OMIM:266600 ORPHA:85414

NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002

INF2

inverted formin 2

ORPHA:656

NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535

IRAK1

interleukin 1 receptor associated kinase 1

ORPHA:93552

NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902

IRF2BP2

interferon regulatory factor 2 binding protein 2

ORPHA:520

NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178

IRF4

interferon regulatory factor 4

ORPHA:3452

NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443

JAK2

Janus kinase 2

ORPHA:131 ORPHA:729

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

KCNN4

potassium calcium-activated channel subfamily N member 4

ORPHA:3202

NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976

KIF1B

kinesin family member 1B

OMIM:256700

NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603

KIT

KIT proto-oncogene, receptor tyrosine kinase

ORPHA:79455

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

KLF1

KLF transcription factor 1

ORPHA:251380

NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201

KLRC4

killer cell lectin like receptor C4

ORPHA:117

NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757

KRAS

KRAS proto-oncogene, GTPase

ORPHA:1333

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

LACC1

laccase domain containing 1

ORPHA:85414

NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932

LIG3

DNA ligase 3

ORPHA:298

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

LIMK1

LIM domain kinase 1

ORPHA:904

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

LRP5

LDL receptor related protein 5

ORPHA:2924

NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275

MAGI2

membrane associated guanylate kinase, WW and PDZ domain containing 2

ORPHA:656

NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667

MALT1

MALT1 paracaspase

ORPHA:52417

NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477

MCM6

minichromosome maintenance complex component 6

OMIM:223100

NCBI chr 2:135,839,626...135,876,443
Ensembl chr 2:135,839,626...135,876,443

MED12

mediator complex subunit 12

OMIM:301068

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

MEFV

MEFV innate immunity regulator, pyrin

OMIM:134610 ORPHA:117 ORPHA:342

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

MEN1

menin 1

ORPHA:652

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

MET

MET proto-oncogene, receptor tyrosine kinase

ORPHA:33402

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

METTL27

methyltransferase like 27

ORPHA:904

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

MIF

macrophage migration inhibitory factor

ORPHA:85414

NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227

MITF

melanocyte inducing transcription factor

ORPHA:897

NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336

MLH1

mutL homolog 1

ORPHA:144

NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846

MLH3

mutL homolog 3

ORPHA:144

NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532

MLXIPL

MLX interacting protein like

ORPHA:904

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

MLYCD

malonyl-CoA decarboxylase

OMIM:248360

NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445

MMUT

methylmalonyl-CoA mutase

ORPHA:79312

NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253

MPL

MPL proto-oncogene, thrombopoietin receptor

ORPHA:729

NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466

MSH2

mutS homolog 2

ORPHA:144

NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146

MSH6

mutS homolog 6

ORPHA:144

NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063

MST1

macrophage stimulating 1

ORPHA:171

NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501

MVK

mevalonate kinase

OMIM:260920 ORPHA:343

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

MYC

MYC proto-oncogene, bHLH transcription factor

ORPHA:543

NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951

MYO1E

myosin IE

ORPHA:656

NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871

NABP1

nucleic acid binding protein 1

ORPHA:520

NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097

NCF1

neutrophil cytosolic factor 1

ORPHA:904

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

NKX2-5

NK2 homeobox 5

ORPHA:871

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NLRP12

NLR family pyrin domain containing 12

OMIM:611762

NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403

NLRP3

NLR family pyrin domain containing 3

ORPHA:47045 ORPHA:575

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108

NOD2

nucleotide binding oligomerization domain containing 2

OMIM:266600 OMIM:617321

NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077

NPHS1

NPHS1 adhesion molecule, nephrin

ORPHA:656

NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287

NPHS2

NPHS2 stomatin family member, podocin

ORPHA:656

NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952

NPM1

nucleophosmin 1

ORPHA:520

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

NR1H4

nuclear receptor subfamily 1 group H member 4

ORPHA:69665

NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414

NRTN

neurturin

ORPHA:388

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

NUMA1

nuclear mitotic apparatus protein 1

ORPHA:520

NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693

NUP107

nucleoporin 107

ORPHA:656

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

NUP133

nucleoporin 133

ORPHA:656

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

NUP160

nucleoporin 160

ORPHA:656

NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555

NUP205

nucleoporin 205

ORPHA:656

NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757

NUP37

nucleoporin 37

ORPHA:656

NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120

NUP85

nucleoporin 85

ORPHA:656

NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758

NUP93

nucleoporin 93

ORPHA:656

NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286

OPLAH

5-oxoprolinase, ATP-hydrolysing

OMIM:260005

NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965

OTC

ornithine transcarbamylase

OMIM:311250

NCBI chr X:38,352,604...38,421,446
Ensembl chr X:38,352,586...38,421,446

OTULIN

OTU deubiquitinase with linear linkage specificity

OMIM:617099

NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850

P4HA2

prolyl 4-hydroxylase subunit alpha 2

ORPHA:397

NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315

PALB2

partner and localizer of BRCA2

ORPHA:1333

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

PALLD

palladin, cytoskeletal associated protein

ORPHA:1333

NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457

PAX2

paired box 2

ORPHA:656

NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944

PIEZO1

piezo type mechanosensitive ion channel component 1

ORPHA:3202

NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

OMIM:615399

NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y

OMIM:616809

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

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ORPHA:144

NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093

PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

OMIM:619802

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

PLCE1

phospholipase C epsilon 1

ORPHA:656

NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823

PML

PML nuclear body scaffold

ORPHA:520

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

PMS1

PMS1 homolog 1, mismatch repair system component

ORPHA:144

NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629

PMS2

PMS1 homolog 2, mismatch repair system component

ORPHA:144

NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130

POLG

DNA polymerase gamma, catalytic subunit

OMIM:613662 ORPHA:298

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

POMT1

protein O-mannosyltransferase 1

ORPHA:86812

NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806

PORCN

porcupine O-acyltransferase

ORPHA:2092

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

POU6F2

POU class 6 homeobox 2

ORPHA:654

NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095

PPOX

protoporphyrinogen oxidase

OMIM:176200 ORPHA:79473

NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

ORPHA:520

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PRKCSH

protein kinase C substrate 80K-H

ORPHA:2924

NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968

PRSS1

serine protease 1

OMIM:167800 ORPHA:676

NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072

PRSS2

serine protease 2

OMIM:167800 ORPHA:676

NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564

PRTN3

proteinase 3

ORPHA:900

NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175

PTEN

phosphatase and tensin homolog

ORPHA:79076

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930

PTPN22

protein tyrosine phosphatase non-receptor type 22

ORPHA:397 ORPHA:900

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

PTPN3

protein tyrosine phosphatase non-receptor type 3

ORPHA:70567

NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313

PTPRO

protein tyrosine phosphatase receptor type O

ORPHA:656

NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175

RABL3

RAB, member of RAS oncogene family like 3

ORPHA:1333

NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993

RAD21

RAD21 cohesin complex component

OMIM:611376

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RARA

retinoic acid receptor alpha

ORPHA:520

NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1

OMIM:615895

NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139

REST

RE1 silencing transcription factor

ORPHA:654

NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808

RET

ret proto-oncogene

ORPHA:388

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

RFC2

replication factor C subunit 2

ORPHA:904

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

RIPK1

receptor interacting serine/threonine kinase 1

OMIM:618852

NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187

RNF168

ring finger protein 168

ORPHA:420741

NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768

RPS20

ribosomal protein S20

ORPHA:440437

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

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:298

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

SAA1

serum amyloid A1

ORPHA:85445

NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977

SCARB2

scavenger receptor class B member 2

ORPHA:77259

NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536

SCN1B

sodium voltage-gated channel beta subunit 1

ORPHA:871

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

SCN5A

sodium voltage-gated channel alpha subunit 5

ORPHA:871

NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687

SDHB

succinate dehydrogenase complex iron sulfur subunit B

ORPHA:97286

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032

SDHC

succinate dehydrogenase complex subunit C

ORPHA:97286

NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206

SDHD

succinate dehydrogenase complex subunit D

ORPHA:97286

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

SEC63

SEC63 homolog, protein translocation regulator

ORPHA:2924

NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208

SEMA3C

semaphorin 3C

ORPHA:388

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

SEMA3D

semaphorin 3D

ORPHA:388

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

SEMA4A

semaphorin 4A

ORPHA:440437

NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752

SEMA4D

semaphorin 4D

ORPHA:171

NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130

SERPING1

serpin family G member 1

OMIM:106100 ORPHA:100050

NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171

sucrase-isomaltase

OMIM:222900

NCBI chr 3:164,978,898...165,157,921
Ensembl chr 3:164,978,898...165,078,496

SLC12A3

solute carrier family 12 member 3

OMIM:263800 ORPHA:358

NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850

SLC25A26

solute carrier family 25 member 26

OMIM:616794

NCBI chr 3:66,133,610...66,378,927
Ensembl chr 3:66,133,610...66,388,116

SLC40A1

solute carrier family 40 member 1

ORPHA:139491

NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

ORPHA:822

NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141

SMAD4

SMAD family member 4

OMIM:174900

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

SMO

smoothened, frizzled class receptor

ORPHA:388

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

SOX10

SRY-box transcription factor 10

ORPHA:163746 ORPHA:897

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SPINK1

serine peptidase inhibitor Kazal type 1

OMIM:167800 OMIM:608189 ORPHA:676

NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671

SPP1

secreted phosphoprotein 1

ORPHA:93552

NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532

SPTA1

spectrin alpha, erythrocytic 1

ORPHA:288 ORPHA:822

NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715

SPTB

spectrin beta, erythrocytic

ORPHA:288 ORPHA:822

NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907

SPTBN1

spectrin beta, non-erythrocytic 1

OMIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446

SREBF1

sterol regulatory element binding transcription factor 1

ORPHA:388

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

SRP54

signal recognition particle 54

ORPHA:486

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

SRSF2

serine and arginine rich splicing factor 2

ORPHA:98849

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

STAT3

signal transducer and activator of transcription 3

ORPHA:520

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540

STAT4

signal transducer and activator of transcription 4

ORPHA:117 ORPHA:93552

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

STAT5B

signal transducer and activator of transcription 5B

ORPHA:520

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

STK11

serine/threonine kinase 11

OMIM:175200 ORPHA:2869

NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431

STOX1

storkhead box 1

ORPHA:275555

NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432

STX1A

syntaxin 1A

ORPHA:904

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

SYK

spleen associated tyrosine kinase

OMIM:619381

NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549

TBC1D8B

TBC1 domain family member 8B

ORPHA:656

NCBI chr X:106,802,673...106,876,150
Ensembl chr X:106,802,673...106,876,150

TBL1XR1

TBL1X/Y related 1

ORPHA:520

NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000

TBL2

transducin beta like 2

ORPHA:904

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

TCF4

transcription factor 4

ORPHA:171

NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

ORPHA:486

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

TERT

telomerase reverse transcriptase

ORPHA:1501

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TET2

tet methylcytosine dioxygenase 2

ORPHA:729

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TGFBR2

transforming growth factor beta receptor 2

ORPHA:144

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

TLR4

toll like receptor 4

ORPHA:117

NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735

TMEM270

transmembrane protein 270

ORPHA:904

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

TNFRSF1A

TNF receptor superfamily member 1A

OMIM:142680 ORPHA:32960

NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114

TP53

tumor protein p53

ORPHA:1333 ORPHA:1501

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538

TREH

trehalase

ORPHA:103909

NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690

TRIM28

tripartite motif containing 28

ORPHA:654

NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722

TRIP13

thyroid hormone receptor interactor 13

ORPHA:654

NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357

TRPC6

transient receptor potential cation channel subfamily C member 6

ORPHA:656

NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562

TRPM4

transient receptor potential cation channel subfamily M member 4

ORPHA:871

NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836

TSC1

TSC complex subunit 1

ORPHA:538

NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874

TSC2

TSC complex subunit 2

ORPHA:538

NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491

TYMP

thymidine phosphorylase

ORPHA:298

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

UBAC2

UBA domain containing 2

ORPHA:117

NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504

UNC45A

unc-45 myosin chaperone A

OMIM:619377

NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093

VHL

von Hippel-Lindau tumor suppressor

ORPHA:892

NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667

VPS37D

VPS37D subunit of ESCRT-I

ORPHA:904

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

WT1

WT1 transcription factor

ORPHA:654 ORPHA:656 ORPHA:83469

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

ZBTB16

zinc finger and BTB domain containing 16

ORPHA:520

NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765

ZNRF3

zinc and ring finger 3

ORPHA:1501

NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488

Abdominal rigidity

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ORPHA:53035

NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613

Abnormal bowel sounds

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CAV1

caveolin 1

ORPHA:220393

NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179

CCN2

cellular communication network factor 2

ORPHA:220393

NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372

CCR6

C-C motif chemokine receptor 6

ORPHA:220393

NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

ORPHA:220393

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

IRF5

interferon regulatory factor 5

ORPHA:220393

NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038

Anorexia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACAT1

acetyl-CoA acetyltransferase 1

ORPHA:134

NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603

ALPL

alkaline phosphatase, biomineralization associated

OMIM:241500

NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410

AQP2

aquaporin 2

ORPHA:223

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

ARG1

arginase 1

OMIM:207800

NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332

ASXL1

ASXL transcriptional regulator 1

ORPHA:98850

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ATM

ATM serine/threonine kinase

ORPHA:52416

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

ORPHA:2131

NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

ORPHA:2131

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

ATRX

ATRX chromatin remodeler

ORPHA:100075

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

AVPR2

arginine vasopressin receptor 2

ORPHA:223

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

BCOR

BCL6 corepressor

ORPHA:520

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

BRCA1 DNA repair associated

ORPHA:70567

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

ORPHA:70567

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

C4A

complement C4A (Rodgers blood group)

ORPHA:117

NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ORPHA:2131

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025

CALR

calreticulin

ORPHA:824

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

CBL

Cbl proto-oncogene

ORPHA:98850

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CBS

cystathionine beta-synthase

ORPHA:394

NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943

CCND1

cyclin D1

ORPHA:52416

NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474

CCR1

C-C motif chemokine receptor 1

ORPHA:117

NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313

CD247

CD247 molecule

ORPHA:169160

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

CD3D

CD3 delta subunit of T-cell receptor complex

ORPHA:169160

NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705

CD3E

CD3 epsilon subunit of T-cell receptor complex

ORPHA:169160

NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175

CDKN1A

cyclin dependent kinase inhibitor 1A

ORPHA:652

NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337

CDKN1B

cyclin dependent kinase inhibitor 1B

ORPHA:652

NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369

CDKN2A

cyclin dependent kinase inhibitor 2A

ORPHA:1333

NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301

CDKN2B

cyclin dependent kinase inhibitor 2B

ORPHA:652

NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305

CDKN2C

cyclin dependent kinase inhibitor 2C

ORPHA:652

NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634

DAXX

death domain associated protein

ORPHA:100075

NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016

ERAP1

endoplasmic reticulum aminopeptidase 1

ORPHA:117

NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100

FAS

Fas cell surface death receptor

ORPHA:117

NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605

FIP1L1

factor interacting with PAPOLA and CPSF1

ORPHA:520

NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ORPHA:370348

NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267

GBA1

glucosylceramidase beta 1

ORPHA:77259

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GLA

galactosidase alpha

ORPHA:324

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

HLA-B

major histocompatibility complex, class I, B

ORPHA:117 ORPHA:3287 ORPHA:397

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

ORPHA:397

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

HLCS

holocarboxylase synthetase

ORPHA:79242

NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

ORPHA:20

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

IFNGR1

interferon gamma receptor 1

ORPHA:117

NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449

IGH

immunoglobulin heavy locus

ORPHA:52416

NCBI chr14:105,586,437...106,879,844

IL10

interleukin 10

ORPHA:117

NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541

IL12A

interleukin 12A

ORPHA:117

NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019

IL12A-AS1

IL12A antisense RNA 1

ORPHA:117

NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299

IL12B

interleukin 12B

ORPHA:3287

NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863

IL23R

interleukin 23 receptor

ORPHA:117

NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979

IRF2BP2

interferon regulatory factor 2 binding protein 2

ORPHA:520

NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178

IRF4

interferon regulatory factor 4

ORPHA:3452

NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443

JAK2

Janus kinase 2

ORPHA:824

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

KLRC4

killer cell lectin like receptor C4

ORPHA:117

NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757

KRAS

KRAS proto-oncogene, GTPase

ORPHA:1333

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

MC2R

melanocortin 2 receptor

ORPHA:361

NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707

MECP2

methyl-CpG binding protein 2

ORPHA:3077

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MEFV

MEFV innate immunity regulator, pyrin

ORPHA:117

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

MEN1

menin 1

ORPHA:652

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

MLX

MAX dimerization protein MLX

ORPHA:3287

NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239

MMADHC

metabolism of cobalamin associated D

ORPHA:79283

NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778

MMUT

methylmalonyl-CoA mutase

ORPHA:79312

NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253

MPL

MPL proto-oncogene, thrombopoietin receptor

ORPHA:824

NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466

MRAP

melanocortin 2 receptor accessory protein

ORPHA:361

NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784

MYD88

MYD88 innate immune signal transduction adaptor

ORPHA:33226

NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024

NABP1

nucleic acid binding protein 1

ORPHA:520

NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097

NFS1

NFS1 cysteine desulfurase

OMIM:619386

NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355

NNT

nicotinamide nucleotide transhydrogenase

ORPHA:361

NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405

NPM1

nucleophosmin 1

ORPHA:520

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

NUMA1

nuclear mitotic apparatus protein 1

ORPHA:520

NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693

P4HA2

prolyl 4-hydroxylase subunit alpha 2

ORPHA:397

NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315

PALB2

partner and localizer of BRCA2

ORPHA:1333

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

PALLD

palladin, cytoskeletal associated protein

ORPHA:1333

NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ORPHA:53035

NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613

PML

PML nuclear body scaffold

ORPHA:520

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

ORPHA:520

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PTPN22

protein tyrosine phosphatase non-receptor type 22

ORPHA:397

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

PTPN3

protein tyrosine phosphatase non-receptor type 3

ORPHA:70567

NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313

RABL3

RAB, member of RAS oncogene family like 3

ORPHA:1333

NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993

RARA

retinoic acid receptor alpha

ORPHA:520

NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643

RUNX1

RUNX family transcription factor 1

ORPHA:98850

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

SCARB2

scavenger receptor class B member 2

ORPHA:77259

NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536

SLC19A2

solute carrier family 19 member 2

ORPHA:49827

NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944

SLC1A3

solute carrier family 1 member 3

ORPHA:2131

NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334

SLC39A4

solute carrier family 39 member 4

ORPHA:37

NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844

SLC46A1

solute carrier family 46 member 1

ORPHA:90045

NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

OMIM:611590

NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141

SMAD4

SMAD family member 4

ORPHA:1333

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

SRSF2

serine and arginine rich splicing factor 2

ORPHA:98850

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

STAR

steroidogenic acute regulatory protein

ORPHA:361

NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992

STAT3

signal transducer and activator of transcription 3

ORPHA:520

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540

STAT4

signal transducer and activator of transcription 4

ORPHA:117

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

STAT5B

signal transducer and activator of transcription 5B

ORPHA:520

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

SYK

spleen associated tyrosine kinase

OMIM:619381

NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549

TBL1XR1

TBL1X/Y related 1

ORPHA:520

NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000

TET2

tet methylcytosine dioxygenase 2

ORPHA:824

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TGFB1

transforming growth factor beta 1

ORPHA:1328

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

TLR4

toll like receptor 4

ORPHA:117

NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735

TP53

tumor protein p53

ORPHA:1333

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538

TXNRD2

thioredoxin reductase 2

ORPHA:361

NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820

UBAC2

UBA domain containing 2

ORPHA:117

NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504

ZBTB16

zinc finger and BTB domain containing 16

ORPHA:520

NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765

Bloody diarrhea

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAM17

ADAM metallopeptidase domain 17

ORPHA:294023

NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732

APOA4

apolipoprotein A4

severity

DNA:missense mutation:cds:p.Q360H

RGD

PMID:17206692

RGD:5685660

NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304

CARD8

caspase recruitment domain family member 8

OMIM:619079

NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946

EGFR

epidermal growth factor receptor

ORPHA:294023

NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628

IL37

interleukin 37

OMIM:619398

NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882

PI4KA

phosphatidylinositol 4-kinase alpha

ORPHA:436252

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

SKIC2

SKI2 subunit of superkiller complex

OMIM:614602

NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818

SKIC3

SKI3 subunit of superkiller complex

ORPHA:84064

NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050

STK11

serine/threonine kinase 11

OMIM:175200

NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431

TGFB1

transforming growth factor beta 1

OMIM:618213

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

TTC7A

tetratricopeptide repeat domain 7A

ORPHA:436252

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

Bowel irritability

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MYMK

myomaker, myoblast fusion factor

OMIM:254940

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

SYK

spleen associated tyrosine kinase

OMIM:619381

NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549

Chronic constipation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAT3

adenosine deaminase tRNA specific 3

ORPHA:363528

NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447

ADNP

activity dependent neuroprotector homeobox

ORPHA:404448

NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437

AFF3

ALF transcription elongation factor 3

OMIM:619297

NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428

ARSB

arylsulfatase B

OMIM:253200

NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087

ASH1L

ASH1 like histone lysine methyltransferase

OMIM:617796

NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162

BICRA

BRD4 interacting chromatin remodeling complex associated protein

OMIM:619325

NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277

CAMK2B

calcium/calmodulin dependent protein kinase II beta

OMIM:617799

NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577

CAMTA1

calmodulin binding transcription activator 1

OMIM:614756

NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706

CNP

2',3'-cyclic nucleotide 3' phosphodiesterase

OMIM:619071

NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740

COL1A1

collagen type I alpha 1 chain

ORPHA:287

NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632

COL5A1

collagen type V alpha 1 chain

ORPHA:287

NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843

COL5A2

collagen type V alpha 2 chain

ORPHA:287

NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312

CREBBP

CREB binding protein

OMIM:618332

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

DDOST

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

OMIM:614507

NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544

DNAJC13

DnaJ heat shock protein family (Hsp40) member C13

ORPHA:411602

NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032

EIF4G1

eukaryotic translation initiation factor 4 gamma 1

ORPHA:411602

NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358

EIF5A

eukaryotic translation initiation factor 5A

OMIM:619376

NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463

ELF4

E74 like ETS transcription factor 4

OMIM:301074

NCBI chr X:130,063,955...130,111,927
Ensembl chr X:130,063,955...130,110,716

ELN

elastin

OMIM:194050

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

EP300

E1A binding protein p300

OMIM:618333

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

ERBB2

erb-b2 receptor tyrosine kinase 2

OMIM:619465

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

FAR1

fatty acyl-CoA reductase 1

OMIM:619338

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346

FBXO28

F-box protein 28

OMIM:619777

NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047

FGF12

fibroblast growth factor 12

OMIM:617166

NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764

GATAD2B

GATA zinc finger domain containing 2B

ORPHA:363686

NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360

GBA1

glucosylceramidase beta 1

ORPHA:411602

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GIGYF2

GRB10 interacting GYF protein 2

ORPHA:411602

NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605

GNB2

G protein subunit beta 2

OMIM:619503

NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174

GRIA1

glutamate ionotropic receptor AMPA type subunit 1

OMIM:619931

NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869

H1-4

H1.4 linker histone, cluster member

OMIM:617537

NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115

H3-3A

H3.3 histone A

OMIM:619720

NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019

H3-3B

H3.3 histone B

OMIM:619721

NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893

H4C5

H4 clustered histone 5

OMIM:619950

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

HIVEP2

HIVEP zinc finger 2

OMIM:616977

NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

OMIM:300986

NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133

HS2ST1

heparan sulfate 2-O-sulfotransferase 1

OMIM:619194

NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982

IGBP1

immunoglobulin binding protein 1

OMIM:300472

NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324

IPO8

importin 8

OMIM:619472

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

KMT5B

lysine methyltransferase 5B

OMIM:617788

NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852

LBX1

ladybird homeobox 1

OMIM:619483

NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463

LMNB1

lamin B1

OMIM:619179

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

LMNB2

lamin B2

OMIM:619180

NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959

LRRK2

leucine rich repeat kinase 2

ORPHA:411602

NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285

MADD

MAP kinase activating death domain

OMIM:619004

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MAGEL2

MAGE family member L2

ORPHA:398069

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

MECP2

methyl-CpG binding protein 2

OMIM:300260

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MED13

mediator complex subunit 13

OMIM:618009

NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278

MEFV

MEFV innate immunity regulator, pyrin

OMIM:249100

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

MLXIPL

MLX interacting protein like

OMIM:194050

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

MLYCD

malonyl-CoA decarboxylase

OMIM:248360

NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445

MNX1

motor neuron and pancreas homeobox 1

OMIM:176450

NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663

MOGS

mannosyl-oligosaccharide glucosidase

ORPHA:79330

NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410

MSL3

MSL complex subunit 3

OMIM:301032

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

MYH11

myosin heavy chain 11

OMIM:619350

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028

MYO1H

myosin IH

OMIM:619482

NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523

NGLY1

N-glycanase 1

ORPHA:404454

NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039

NSD2

nuclear receptor binding SET domain protein 2

OMIM:619695

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

ODC1

ornithine decarboxylase 1

ORPHA:544488

NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327

OPA1

OPA1 mitochondrial dynamin like GTPase

OMIM:210000

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

OTUD6B

OTU deubiquitinase 6B

OMIM:617452 ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

PAK2

p21 (RAC1) activated kinase 2

OMIM:618458

NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647

PCGF2

polycomb group ring finger 2

OMIM:618371

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

PHOX2B

paired like homeobox 2B

OMIM:209880

NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725

POGZ

pogo transposable element derived with ZNF domain

ORPHA:468678

NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494

POU4F1

POU class 4 homeobox 1

OMIM:619352

NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552

PPP1CB

protein phosphatase 1 catalytic subunit beta

OMIM:617506

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

PPP1R21

protein phosphatase 1 regulatory subunit 21

OMIM:619383

NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391

PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha

OMIM:616362

NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518

PRKG2

protein kinase cGMP-dependent 2

OMIM:619636

NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222

PSMB8

proteasome 20S subunit beta 8

OMIM:256040

NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679

RAI1

retinoic acid induced 1

ORPHA:477817

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

RORA

RAR related orphan receptor A

OMIM:618060

NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302

SETD1A

SET domain containing 1A, histone lysine methyltransferase

OMIM:619056

NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,754...30,984,664

SETD5

SET domain containing 5

ORPHA:404440

NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240

SH2B1

SH2B adaptor protein 1

ORPHA:261222

NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212

SLC12A2

solute carrier family 12 member 2

OMIM:619080

NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677

SLC38A3

solute carrier family 38 member 3

OMIM:619881

NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486

SMO

smoothened, frizzled class receptor

OMIM:601707

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

SNCA

synuclein alpha

ORPHA:411602

NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315

SPATA5

spermatogenesis associated 5

OMIM:616577

NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433

SPOP

speckle type BTB/POZ protein

OMIM:618829

NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163

SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit

OMIM:619480

NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019

TANC2

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

OMIM:618906

NCBI chr17:62,966,235...63,427,703
Ensembl chr17:62,966,235...63,427,703

TAOK1

TAO kinase 1

OMIM:619575

NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903

TBCD

tubulin folding cofactor D

ORPHA:496641

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

TFE3

transcription factor binding to IGHM enhancer 3

OMIM:301066

NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410

TMCO1

transmembrane and coiled-coil domains 1

OMIM:213980

NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755

TNFRSF1A

TNF receptor superfamily member 1A

OMIM:142680

NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114

TRIM8

tripartite motif containing 8

OMIM:619428

NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,644,479...102,658,318

TRIO

trio Rho guanine nucleotide exchange factor

OMIM:617061 OMIM:618825 ORPHA:476126

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

UBE2A

ubiquitin conjugating enzyme E2 A

ORPHA:163956

NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083

UGP2

UDP-glucose pyrophosphorylase 2

OMIM:618744

NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

OMIM:300676

NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998

USP7

ubiquitin specific peptidase 7

ORPHA:500055

NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328

USP9X

ubiquitin specific peptidase 9 X-linked

OMIM:300919

NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579

VPS35

VPS35 retromer complex component

ORPHA:411602

NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518

WASF1

WASP family member 1

OMIM:618707

NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004

ZMYND11

zinc finger MYND-type containing 11

ClinVar Annotator: match by term: Infrequent bowel movements

PMID:25741868

NCBI chr10:130,088...254,637
Ensembl chr10:130,088...254,637

ZNF292

zinc finger protein 292

OMIM:619188

NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943

Chronic diarrhea

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA

adenosine deaminase

OMIM:102700

NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

ORPHA:79327

NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379

ANTXR2

ANTXR cell adhesion molecule 2

ORPHA:2176

NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454

ARID2

AT-rich interaction domain 2

ClinVar Annotator: match by term: Chronic diarrhea

PMID:25741868

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

ASAH1

N-acylsphingosine amidohydrolase 1

ORPHA:333

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

ATM

ATM serine/threonine kinase

OMIM:208900

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102

ATP6AP1

ATPase H+ transporting accessory protein 1

OMIM:300972

NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516

ATP7A

ATPase copper transporting alpha

OMIM:304150

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

BACH2

BTB domain and CNC homolog 2

OMIM:618394

NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843

BTK

Bruton tyrosine kinase

OMIM:300755

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

C4B

complement C4B (Chido blood group)

OMIM:614379

NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418

CARD8

caspase recruitment domain family member 8

OMIM:619079

NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946

CARMIL2

capping protein regulator and myosin 1 linker 2

OMIM:618131

NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569

CASP8

caspase 8

OMIM:607271

NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836

CCDC47

coiled-coil domain containing 47

OMIM:618268

NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351

CD3G

CD3 gamma subunit of T-cell receptor complex

OMIM:615607

NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161

CHD7

chromodomain helicase DNA binding protein 7

ORPHA:39041

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

CLMP

CXADR like membrane protein

OMIM:615237

NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248

COG4

component of oligomeric golgi complex 4

OMIM:613489

NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560

COG6

component of oligomeric golgi complex 6

OMIM:614576

NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665

CR2

complement C3d receptor 2

OMIM:614699

NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895

CYP27A1

cytochrome P450 family 27 subfamily A member 1

ORPHA:909

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

DCLRE1C

DNA cross-link repair 1C

OMIM:602450

NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432

DNASE2

deoxyribonuclease 2, lysosomal

OMIM:619858

NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595

DOCK2

dedicator of cytokinesis 2

OMIM:616433

NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382

EPCAM

epithelial cell adhesion molecule

ORPHA:92050

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

OMIM:601675

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ETHE1

ETHE1 persulfide dioxygenase

OMIM:602473

NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230

FCHO1

FCH and mu domain containing endocytic adaptor 1

OMIM:619164

NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568

FOXP3

forkhead box P3

OMIM:304790

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

GUCY2C

guanylate cyclase 2C

OMIM:614616

NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599

HEATR3

HEAT repeat containing 3

OMIM:620072

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HEXB

hexosaminidase subunit beta

OMIM:268800

NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647

HYOU1

hypoxia up-regulated 1

OMIM:233600

NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227

IDS

iduronate 2-sulfatase

ORPHA:217085

NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096

IDUA

alpha-L-iduronidase

ORPHA:93473

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

IGHM

immunoglobulin heavy constant mu

OMIM:601495

NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218

IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta

OMIM:615592

NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460

IL21R

interleukin 21 receptor

OMIM:615207

NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042

IL2RA

interleukin 2 receptor subunit alpha

OMIM:606367

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

IL2RG

interleukin 2 receptor subunit gamma

OMIM:300400 ORPHA:39041

NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:618523

NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022

IL7R

interleukin 7 receptor

ORPHA:169154 ORPHA:39041

NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603

IPO8

importin 8

OMIM:619472

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

IRF2BP2

interferon regulatory factor 2 binding protein 2

OMIM:617765

NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178

ITCH

itchy E3 ubiquitin protein ligase

OMIM:613385

NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773

ITGB2

integrin subunit beta 2

OMIM:116920

NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989

JAK3

Janus kinase 3

OMIM:600802

NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071

KMT5B

lysine methyltransferase 5B

OMIM:617788

NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852

LIG4

DNA ligase 4

ORPHA:235 ORPHA:39041

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

LRBA

LPS responsive beige-like anchor protein

OMIM:614700

NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727

MADD

MAP kinase activating death domain

OMIM:619004

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MGME1

mitochondrial genome maintenance exonuclease 1

OMIM:615084

NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122

MTTP

microsomal triglyceride transfer protein

ORPHA:14

NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997

MVK

mevalonate kinase

OMIM:260920

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

NBN

nibrin

ORPHA:647

NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

NSUN2

NOP2/Sun RNA methyltransferase 2

ORPHA:235

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

OTULIN

OTU deubiquitinase with linear linkage specificity

OMIM:617099

NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850

PERCC1

proline and glutamate rich with coiled coil 1

ORPHA:92050

NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441

PGM1

phosphoglucomutase 1

OMIM:614921

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

OMIM:619281

NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

OMIM:616005

NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821

PKP1

plakophilin 1

ORPHA:158668

NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993

POLA1

DNA polymerase alpha 1, catalytic subunit

OMIM:301220

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

OMIM:616355

NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342

RAG1

recombination activating 1

ORPHA:39041

NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156

RAG2

recombination activating 2

ORPHA:39041

NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1

OMIM:615895

NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139

REL

REL proto-oncogene, NF-kB subunit

OMIM:619652

NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

ORPHA:39041

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

RNF113A

ring finger protein 113A

OMIM:300953

NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733

SAA1

serum amyloid A1

ORPHA:85445

NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977

SAMD9

sterile alpha motif domain containing 9

OMIM:617053

NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023

SKIC2

SKI2 subunit of superkiller complex

OMIM:614602

NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818

SLC10A2

solute carrier family 10 member 2

OMIM:613291

NCBI chr13:103,043,998...103,066,417
Ensembl chr13:103,043,998...103,066,417

SLC35C1

solute carrier family 35 member C1

ORPHA:99843

NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016

SLC39A4

solute carrier family 39 member 4

ORPHA:37

NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844

SLC51A

solute carrier family 51 subunit alpha

OMIM:619484

NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178

SLC51B

solute carrier family 51 subunit beta

OMIM:619481

NCBI chr15:65,045,387...65,053,397
Ensembl chr15:65,045,387...65,053,397

SLC5A1

solute carrier family 5 member 1

OMIM:606824

NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029

SON

SON DNA and RNA binding protein

OMIM:617140

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

SREBF1

sterol regulatory element binding transcription factor 1

OMIM:158310

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

STAT1

signal transducer and activator of transcription 1

ClinVar Annotator: match by term: Recurrent diarrhea

PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More...

NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960

STX3

syntaxin 3

OMIM:619446

NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882

TCF3

transcription factor 3

OMIM:619824

NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

TERT

telomerase reverse transcriptase

PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342

OMIM:613989
ClinVar Annotator: match by term: Chronic diarrhea

HPO
ClinVar

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TFRC

transferrin receptor

OMIM:616740

NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153

TKFC

triokinase and FMN cyclase

OMIM:618805

NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295

TNFRSF1A

TNF receptor superfamily member 1A

OMIM:142680

NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114

TOM1

target of myb1 membrane trafficking protein

OMIM:619510

NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992

USP7

ubiquitin specific peptidase 7

ORPHA:500055

NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328

WAS

WASP actin nucleation promoting factor

ORPHA:906

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

WIPF1

WAS/WASL interacting protein family member 1

ORPHA:906

NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916

WNT2B

Wnt family member 2B

ClinVar Annotator: match by term: Recurrent diarrhea

PMID:29909964

NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165

ZAP70

zeta chain of T cell receptor associated protein kinase 70

ORPHA:911

NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862

Constipation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCD1

ATP binding cassette subfamily D member 1

ORPHA:388

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

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

OMIM:617602

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

ACTG2

actin gamma 2, smooth muscle

OMIM:155310

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

ADH1C

alcohol dehydrogenase 1C (class I), gamma polypeptide

OMIM:168600

NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746

AFF4

ALF transcription elongation factor 4

OMIM:616368

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

aminolevulinate dehydratase

ORPHA:100924

NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290

ALDOB

aldolase, fructose-bisphosphate B

ORPHA:469

NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664

ALPL

alkaline phosphatase, biomineralization associated

OMIM:241500

NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410

AMN

amnion associated transmembrane protein

ORPHA:35858

NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596

APC

APC regulator of WNT signaling pathway

ORPHA:99818

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

APC2

APC regulator of WNT signaling pathway 2

ORPHA:821

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

AQP2

aquaporin 2

OMIM:125800 ORPHA:223

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

ARID1B

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Dyschezia

PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 More...

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARID2

AT-rich interaction domain 2

OMIM:617808

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

ORPHA:3157

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

ARVCF

ARVCF delta catenin family member

ORPHA:567

NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823

ATN1

atrophin 1

OMIM:618494

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

ORPHA:2131

NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

ORPHA:2131

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

ATP7A

ATPase copper transporting alpha

ORPHA:388

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

ATRX

ATRX chromatin remodeler

OMIM:301040 OMIM:309580 ORPHA:847

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

ATXN2

ataxin 2

OMIM:168600

NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676

ATXN8OS

ATXN8 opposite strand lncRNA

OMIM:168600

NCBI chr13:70,107,213...70,139,753
Ensembl chr13:70,107,213...70,171,738

AVPR2

arginine vasopressin receptor 2

OMIM:304800 ORPHA:223

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

BAZ1B

bromodomain adjacent to zinc finger domain 1B

ORPHA:904

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

BCL10

BCL10 immune signaling adaptor

ORPHA:52417

NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632

BCL7B

BAF chromatin remodeling complex subunit BCL7B

ORPHA:904

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

BIRC3

baculoviral IAP repeat containing 3

ORPHA:52417

NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403

BMPR1A

bone morphogenetic protein receptor type 1A

ORPHA:440437

NCBI chr10:86,755,763...86,927,969
Ensembl chr10:86,756,601...86,932,825

BRAF

B-Raf proto-oncogene, serine/threonine kinase

OMIM:115150

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

BRCA1 DNA repair associated

ORPHA:168829

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

ORPHA:904

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ORPHA:2131

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025

CACNA1C

calcium voltage-gated channel subunit alpha1 C

OMIM:620029

NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950

CACNA1S

calcium voltage-gated channel subunit alpha1 S

ORPHA:79102

NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451

CAMTA1

calmodulin binding transcription activator 1

ORPHA:314647

NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706

CASR

calcium sensing receptor

OMIM:239200

NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629

CASZ1

castor zinc finger 1

ORPHA:1606

NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650

CAVIN1

caveolae associated protein 1

OMIM:613327

NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256

CD96

CD96 molecule

ORPHA:1308