Abnormal renal morphology - Ontology Report

ORPHA:48

NCBI chr X:18,989,307...19,122,956
Ensembl chr X:18,989,307...19,122,637

CASR

calcium sensing receptor

susceptibility

PMID:17018660 PMID:21183554 PMID:20067903

DNA:missense mutation:cds:p.R990G (rs1042636)
associated with Hyperparathyroidism, Primary;DNA:snp:intron:IVS1G>A (rs1501899)
DNA:snps, haplotypes:multiple

RGD

RGD:13464331, RGD:7205447, RGD:7205448

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

CFTR

CF transmembrane conductance regulator

ORPHA:48

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

EHMT1

euchromatic histone lysine methyltransferase 1

OMIM:610253

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

FANCI

FA complementation group I

OMIM:609053

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

FGFR2

fibroblast growth factor receptor 2

OMIM:207410

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

FLCN

folliculin

OMIM:610883

NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188

GLMN

glomulin, FKBP associated protein

ORPHA:83454

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

IL1RN

interleukin 1 receptor antagonist

susceptibility

PMID:10916103 PMID:9186886 PMID:16174285 PMID:17258699 PMID:19280228

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2
associated with Diabetes Mellitus, Type 2;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1
DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951)

RGD

RGD:6906961, RGD:6909151, RGD:6907371, RGD:6907128, RGD:6907082

NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016

MMP1

matrix metallopeptidase 1

susceptibility
no_association

PMID:12845675 PMID:17980059 PMID:19843588

DNA:insertion:promoter:g.-1607insG

RGD

RGD:7207023, RGD:7207082, RGD:7207056

NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160

MMP3

matrix metallopeptidase 3

DNA:missense mutation:cds:p.E45K (rs679620)

RGD

PMID:15319295

RGD:7207067

NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609

MTHFR

methylenetetrahydrofolate reductase

susceptibility
severity
no_association

DNA:transition, transversion:cds:g.677C>T, g.1298A>C
DNA:missense mutation:cds:p.A222V (rs1801133)
DNA:transition:cds:g.677C>T

RGD

PMID:21489764 PMID:18098291 PMID:20039875 PMID:19346876 PMID:19520069 More...

RGD:6893474, RGD:6893654, RGD:6893632, RGD:6893546, RGD:6893523, RGD:6893522

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

PACS1

phosphofurin acidic cluster sorting protein 1

ORPHA:329224

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PAH

phenylalanine hydroxylase

ORPHA:2209

NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

OMIM:239300

NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659

POR

cytochrome p450 oxidoreductase

OMIM:207410

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

RAI1

retinoic acid induced 1

OMIM:182290 ORPHA:477817

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

SLC35A2

solute carrier family 35 member A2

ORPHA:356961

NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958

TLR1

toll like receptor 1

susceptibility

DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095)

RGD

PMID:21108742

RGD:7246898

NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817

TLR9

toll like receptor 9

severity
susceptibility

PMID:20497632 PMID:18776126 PMID:22251233

DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140)
DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140)
kidney;DNA:snp:exon:g.+2848G>A (rs352140)

RGD

RGD:7246884, RGD:7246889, RGD:7246885

NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645

WD repeat domain 19

DNA:missense mutations, snps, insertion:multiple

RGD

PMID:26260382

RGD:11553845

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

Abnormal glomerular mesangium morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

fibronectin 1

ORPHA:84090

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

Abnormal localization of kidney

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AKT3

AKT serine/threonine kinase 3

ORPHA:83473

NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ORPHA:500

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

BRCA1

BRCA1 DNA repair associated

ORPHA:84

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

BRCA2

BRCA2 DNA repair associated

ORPHA:84

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

BRIP1

BRCA1 interacting helicase 1

ORPHA:84

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

CCND2

cyclin D2

ORPHA:83473

NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353

DEAF1

DEAF1 transcription factor

ORPHA:819

NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118

DHCR7

7-dehydrocholesterol reductase

ORPHA:818

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

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:84

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

FA complementation group A

ORPHA:84

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

FANCB

FA complementation group B

ORPHA:84

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

FA complementation group C

ORPHA:84

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

FANCD2

FA complementation group D2

ORPHA:84

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

FA complementation group E

ORPHA:84

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

FANCF

FA complementation group F

ORPHA:84

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

FANCG

FA complementation group G

ORPHA:84

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

FANCI

FA complementation group I

ORPHA:84

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

FANCL

FA complementation group L

ORPHA:84

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

FANCM

FA complementation group M

ORPHA:84

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

FLII

FLII actin remodeling protein

ORPHA:819

NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

ORPHA:819

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

MAD2L2

mitotic arrest deficient 2 like 2

ORPHA:84

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

MCTP2

multiple C2 and transmembrane domain containing 2

ORPHA:1596

NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952

PALB2

partner and localizer of BRCA2

ORPHA:84

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

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

ORPHA:83473

NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532

PTPN11

protein tyrosine phosphatase non-receptor type 11

ORPHA:500

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RAB18

RAB18, member RAS oncogene family

ORPHA:2510

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

ORPHA:2510

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

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

ORPHA:2510

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

RAD51

RAD51 recombinase

ORPHA:84

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

RAD51C

RAD51 paralog C

ORPHA:84

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

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

ORPHA:500

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RAI1

retinoic acid induced 1

ORPHA:819

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

RECQL4

RecQ like helicase 4

ORPHA:1225

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

RFWD3

ring finger and WD repeat domain 3

ORPHA:84

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

SLX4

SLX4 structure-specific endonuclease subunit

ORPHA:84

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

TBC1D20

TBC1 domain family member 20

ORPHA:2510

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

TBX22

T-box transcription factor 22

ORPHA:921

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

UBE2T

ubiquitin conjugating enzyme E2 T

ORPHA:84

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

XRCC2

X-ray repair cross complementing 2

ORPHA:84

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

Abnormal renal artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

Abnormal renal collecting system morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EYA1

EYA transcriptional coactivator and phosphatase 1

OMIM:113650

NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

ORPHA:280633

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

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

RTTN

rotatin

ORPHA:468631

NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726

SIX1

SIX homeobox 1

OMIM:113650

NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

ORPHA:17

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

Abnormal renal cortex morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Abnormal renal corticomedullary differentiation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COQ7

coenzyme Q7, hydroxylase

OMIM:616733

NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095

USP18

ubiquitin specific peptidase 18

OMIM:617397

NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,118...18,177,397

Abnormal renal glomerulus morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APOE

apolipoprotein E

DNA:missense mutation:cds:p.R145P

RGD

PMID:9176854

RGD:6903202

NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393

MTHFR

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T

RGD

PMID:22111818

RGD:6893468

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

Abnormal renal insterstitial morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DCDC2

doublecortin domain containing 2

ORPHA:84081

NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059

TMEM67

transmembrane protein 67

ORPHA:84081

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

Abnormal renal medulla morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Abnormal renal pelvis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DCHS1

dachsous cadherin-related 1

ClinVar Annotator: match by term: Abnormality of the renal pelvis

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809

Abnormal renal tubule morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GLA

galactosidase alpha

ORPHA:324

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

MRPS22

mitochondrial ribosomal protein S22

OMIM:611719

NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

ORPHA:255210

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ORPHA:255210

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

ORPHA:255210

NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511

MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

ORPHA:255210

NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ORPHA:255210

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ORPHA:255210

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

ORPHA:255210

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

ORPHA:255210

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

ORPHA:255210

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TV

mitochondrially encoded tRNA-Val (GUN)

ORPHA:255210

NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

ORPHA:255210

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

NDUFAF3

NADH:ubiquinone oxidoreductase complex assembly factor 3

ORPHA:70474

NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495

NDUFB8

NADH:ubiquinone oxidoreductase subunit B8

ORPHA:70474

NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000

NDUFS2

NADH:ubiquinone oxidoreductase core subunit S2

ORPHA:70474

NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723

NPHS1 adhesion molecule, nephrin

ORPHA:839

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

OCRL

OCRL inositol polyphosphate-5-phosphatase

ORPHA:534

NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561

PMM2

phosphomannomutase 2

ORPHA:79318

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

REN

renin

DNA:polymorphisms:cds, intron:multiple

RGD

PMID:16116425

RGD:1598878

NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324

SCO2

synthesis of cytochrome C oxidase 2

ORPHA:70474

NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461

SHPK

sedoheptulokinase

ORPHA:440713

NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250

SLC22A12

solute carrier family 22 member 12

ORPHA:94088

NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353

SLC2A9

solute carrier family 2 member 9

ORPHA:94088

NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936

SURF1

SURF1 cytochrome c oxidase assembly factor

ORPHA:70474

NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676

Abnormal tubulointerstitial morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

ORPHA:904

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

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

CTNS

cystinosin, lysosomal cystine transporter

ORPHA:411629

NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103

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

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

ELN

elastin

ORPHA:904

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

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

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

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

METTL27

methyltransferase like 27

ORPHA:904

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

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

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

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

STX1A

syntaxin 1A

ORPHA:904

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

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

TMEM270

transmembrane protein 270

ORPHA:904

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

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

Abnormality of medullary pyramid morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LONP1

lon peptidase 1, mitochondrial

ORPHA:79243

NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572

PDHA1

pyruvate dehydrogenase E1 subunit alpha 1

ORPHA:79243

NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718

Absence of renal corticomedullary differentiation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

H4C3

H4 clustered histone 3

OMIM:619758

NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337

IFNG

interferon gamma

OMIM:613254

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

INVS

inversin

OMIM:602088

NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175

paired box 2

OMIM:120330

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

PBX homeobox 1

OMIM:617641

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

OMIM:263200

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

TSC2

TSC complex subunit 2

OMIM:613254

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

Axial malrotation of the kidney

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RBM8A

RNA binding motif protein 8A

OMIM:274000 ORPHA:3320

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

Bilateral fetal pyelectasis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

Bilateral renal agenesis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EYA1

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Bilateral renal agenesis

NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025

GFRA1

GDNF family receptor alpha 1

OMIM:619887

NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803

GLI3

GLI family zinc finger 3

ORPHA:672

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

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

ITGA8

integrin subunit alpha 8

OMIM:191830

NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922

KIF14

kinesin family member 14

OMIM:617914

NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751

NADSYN1

NAD synthetase 1

OMIM:618845

NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107

ROBO1

roundabout guidance receptor 1

ClinVar Annotator: match by term: Bilateral renal agenesis

PMID:25741868 PMID:29194579

NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998

Bilateral renal atrophy

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MAFB

MAF bZIP transcription factor B

OMIM:166300

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

Bilateral renal dysplasia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SON

SON DNA and RNA binding protein

ORPHA:500150

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

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Bilateral renal hypoplasia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CENPF

centromere protein F

OMIM:243605

NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574

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

PUF60

poly(U) binding splicing factor 60

ORPHA:508488

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Calcium nephrolithiasis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MEN1

menin 1

ClinVar Annotator: match by term: Calcium kidney stone

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

SLC34A2

solute carrier family 34 member 2

ORPHA:60025

NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748

SLC34A3

solute carrier family 34 member 3

OMIM:241530

NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555

Calcium oxalate nephrolithiasis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADCY10

adenylate cyclase 10

OMIM:143870 ORPHA:2197

NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215

AGXT

alanine--glyoxylate aminotransferase

OMIM:259900

NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502

AHSG

alpha 2-HS glycoprotein

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318

BGLAP

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317

CD44

CD44 molecule (Indian blood group)

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402

GRHPR

glyoxylate and hydroxypyruvate reductase

OMIM:260000

NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990

HAO1

hydroxyacid oxidase 1

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr20:7,882,985...7,940,458
Ensembl chr20:7,882,985...7,940,458

HOGA1

4-hydroxy-2-oxoglutarate aldolase 1

OMIM:613616 ORPHA:93600

NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802

IDUA

alpha-L-iduronidase

ClinVar Annotator: match by term: Calcium oxalate urolithiasis
ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis

PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More...

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

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

PAQR6

progestin and adipoQ receptor family member 6

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr 1:156,243,320...156,248,056
Ensembl chr 1:156,243,320...156,248,117

SLC26A1

solute carrier family 26 member 1

OMIM:167030
ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis
ClinVar Annotator: match by term: Calcium oxalate urolithiasis

PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More...

NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440

SLC36A2

solute carrier family 36 member 2

OMIM:138500

NCBI chr 5:151,314,972...151,347,559
Ensembl chr 5:151,314,972...151,347,590

SLC6A19

solute carrier family 6 member 19

OMIM:138500

NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111

SLC6A20

solute carrier family 6 member 20

OMIM:138500

NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574

SNORD164

small nucleolar RNA, C/D box 164

ClinVar Annotator: match by term: Calcium oxalate urolithiasis

NCBI chr11:35,162,950...35,163,010

TBC1D7

TBC1 domain family member 7

OMIM:248000

NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583

Chronic tubulointerstitial nephritis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

INVS

inversin

OMIM:602088

NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175

WD repeat domain 19

OMIM:614376

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

Cortical nephrocalcinosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC6

ATP binding cassette subfamily C member 6

ORPHA:51608

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

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

ORPHA:51608

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

Crescentic glomerulonephritis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CEL

carboxyl ester lipase

ClinVar Annotator: match by term: Crescentic glomerulonephritis

PMID:18414213 PMID:25741868

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

COPA

COPI coat complex subunit alpha

OMIM:616414

NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566

Crossed fused renal ectopia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC

APC regulator of WNT signaling pathway

ORPHA:3258

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

CDC42BPB

CDC42 binding protein kinase beta

OMIM:619841

NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549

CTU2

cytosolic thiouridylase subunit 2

OMIM:618142

NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396

DACT1

dishevelled binding antagonist of beta catenin 1

OMIM:617466

NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321

DDX59

DEAD-box helicase 59

ORPHA:2919

NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907

KDM6A

lysine demethylase 6A

OMIM:147920 ORPHA:2322

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KMT2D

lysine methyltransferase 2D

OMIM:147920 ORPHA:2322

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

LRP4

LDL receptor related protein 4

ORPHA:3258

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

SALL4

spalt like transcription factor 4

OMIM:607323 ORPHA:959

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

WT1 transcription factor

ORPHA:3097

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

Cystic renal dysplasia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BICC1

BicC family RNA binding protein 1

OMIM:601331

NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435

BMPER

BMP binding endothelial regulator

OMIM:608022

NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427

CEP290

centrosomal protein 290

ClinVar Annotator: match by term: Cystic renal dysplasia

PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 More...

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CPT2

carnitine palmitoyltransferase 2

ORPHA:228308

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

JAM3

junctional adhesion molecule 3

OMIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

LRRC37A2

leucine rich repeat containing 37 member A2

ClinVar Annotator: match by term: Cystic renal dysplasia

PMID:34145744

NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910

NEK8

NIMA related kinase 8

OMIM:615415

NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455

TBC1D24

TBC1 domain family member 24

OMIM:220500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560

TMEM67

transmembrane protein 67

DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)

RGD

PMID:26191240

RGD:11535080

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

WNT9B

Wnt family member 9B

ClinVar Annotator: match by term: Cystic renal dysplasia

PMID:34145744

NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730

Decreased numbers of nephrons

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

HNF1B

HNF1 homeobox B

OMIM:137920

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

PBX homeobox 1

OMIM:617641

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

Diffuse mesangial sclerosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTN4

actinin alpha 4

ORPHA:656

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

ADA

adenosine deaminase

OMIM:102700

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

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

APOL1

apolipoprotein L1

ORPHA:656

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

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

OMIM:615244

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

AVIL

advillin

OMIM:618594

NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734

CD2AP

CD2 associated protein

ORPHA:656

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

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

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:25514610 PMID:25741868 PMID:28632965

NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453

COQ6

coenzyme Q6, monooxygenase

OMIM:614650

NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670

COQ8B

coenzyme Q8B

ORPHA:656

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

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

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

EMP2

epithelial membrane protein 2

ORPHA:656

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

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

GON7

GON7 subunit of KEOPS complex

OMIM:619603

NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065

INF2

inverted formin 2

ORPHA:656

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

LAMB2

laminin subunit beta 2

OMIM:609049
ClinVar Annotator: match by term: Diffuse mesangial sclerosis

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

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

MYO1E

myosin IE

ORPHA:656

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

NPHS1 adhesion molecule, nephrin

OMIM:256300

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

NUP107

nucleoporin 107

OMIM:616730 OMIM:618348 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

OMIM:616892

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

OSGEP

O-sialoglycoprotein endopeptidase

OMIM:617729

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

paired box 2

ORPHA:656

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

PLCE1

phospholipase C epsilon 1

OMIM:610725

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

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

SGPL1

sphingosine-1-phosphate lyase 1

OMIM:617575

NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816

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

TP53RK

TP53 regulating kinase

OMIM:617730

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

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

WDR73

WD repeat domain 73

OMIM:251300

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

WT1 transcription factor

OMIM:194080 OMIM:256370 ORPHA:656

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

YRDC

yrdC N6-threonylcarbamoyltransferase domain containing

OMIM:619609

NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208

Dilatation of renal calices

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

KMT2A

lysine methyltransferase 2A

ORPHA:319182

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

POLR3A

RNA polymerase III subunit A

ORPHA:3455

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

WAC

WW domain containing adaptor with coiled-coil

ORPHA:466950

NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112

Dilatation of the renal pelvis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

ORPHA:268261

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

PI4KA

phosphatidylinositol 4-kinase alpha

OMIM:619708

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

POR

cytochrome p450 oxidoreductase

ORPHA:95699

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

RBM8A

RNA binding motif protein 8A

OMIM:274000

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

SCARF2

scavenger receptor class F member 2

OMIM:600920

NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826

Duplicated collecting system

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL18A1

collagen type XVIII alpha 1 chain

OMIM:267750

NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720

DHCR7

7-dehydrocholesterol reductase

OMIM:270400

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

FA complementation group A

OMIM:227650

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

FA complementation group C

OMIM:227645

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

FANCD2

FA complementation group D2

OMIM:227646

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

FA complementation group E

OMIM:600901

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

IARS1

isoleucyl-tRNA synthetase 1

OMIM:617093

NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854

JAG1

jagged canonical Notch ligand 1

OMIM:118450

NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999

KDM6A

lysine demethylase 6A

ORPHA:2322

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KMT2D

lysine methyltransferase 2D

ORPHA:2322

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

LAMA3

laminin subunit alpha 3

ORPHA:79404

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

LAMB3

laminin subunit beta 3

ORPHA:79404

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

LAMC2

laminin subunit gamma 2

ORPHA:79404

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

MAPK1

mitogen-activated protein kinase 1

OMIM:619087

NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680

OTUD5

OTU deubiquitinase 5

OMIM:301056

NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

OMIM:280000

NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797

POGZ

pogo transposable element derived with ZNF domain

OMIM:616364

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

PSMC1

proteasome 26S subunit, ATPase 1

OMIM:620071

NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429

SHOC2

SHOC2 leucine rich repeat scaffold protein

OMIM:607721

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

TELO2

telomere maintenance 2

ORPHA:488642

NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457

TNXB

tenascin XB

OMIM:615963

NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334

TP63

tumor protein p63

OMIM:604292

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

Duplication of renal pelvis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GPC3

glypican 3

OMIM:312870

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

GPC4

glypican 4

OMIM:312870

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

KCTD1

potassium channel tetramerization domain containing 1

ORPHA:2036

NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401

SLC6A17

solute carrier family 6 member 17

ORPHA:457212

NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202

ZEB2

zinc finger E-box binding homeobox 2

ORPHA:261552

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

Ectopic kidney

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAMTS3

ADAM metallopeptidase with thrombospondin type 1 motif 3

ORPHA:2136

NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221

ARID1B

AT-rich interaction domain 1B

OMIM:135900

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

CCBE1

collagen and calcium binding EGF domains 1

OMIM:235510 ORPHA:2136

NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662

CCNQ

cyclin Q

ORPHA:140952

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CHN1

chimerin 1

ORPHA:233

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

DACT1

dishevelled binding antagonist of beta catenin 1

ORPHA:857

NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321

DNA2

DNA replication helicase/nuclease 2

OMIM:615807

NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121

FA complementation group A

OMIM:227650

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

FA complementation group C

OMIM:227645

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

FA complementation group E

OMIM:600901

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

FAT4

FAT atypical cadherin 4

ORPHA:2136

NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932

FUZ

fuzzy planar cell polarity protein

ORPHA:3027

NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376

GLI3

GLI family zinc finger 3

OMIM:146510 ORPHA:672

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

HMGA2

high mobility group AT-hook 2

ORPHA:94063

NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291

HOXD13

homeobox D13

ORPHA:887

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

JAM3

junctional adhesion molecule 3

OMIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

KNSTRN

kinetochore localized astrin (SPAG5) binding protein

OMIM:613328

NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288

LEMD3

LEM domain containing 3

ORPHA:94063

NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355

LRP4

LDL receptor related protein 4

OMIM:212780

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

MAFB

MAF bZIP transcription factor B

ORPHA:233

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

NIPBL

NIPBL cohesin loading factor

OMIM:122470

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NRIP1

nuclear receptor interacting protein 1

OMIM:618270

NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936

PBX homeobox 1

OMIM:617641

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

PIK3CD

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

OMIM:613328

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

RBBP8

RB binding protein 8, endonuclease

OMIM:606744

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

RIPK4

receptor interacting serine/threonine kinase 4

OMIM:263650

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

RPS26

ribosomal protein S26

OMIM:613309

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

SALL1

spalt like transcription factor 1

ORPHA:857

NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334

SALL4

spalt like transcription factor 4

ORPHA:233

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

SF3B2

splicing factor 3b subunit 2

OMIM:164210

NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308

SMS

spermine synthase

ORPHA:3063

NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

OMIM:117650

NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

ORPHA:1519

NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739

SPINK5

serine peptidase inhibitor Kazal type 5

ORPHA:634

NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382

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

VANGL1

VANGL planar cell polarity protein 1

ORPHA:3027

NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224

WNT4

Wnt family member 4

ORPHA:3109

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

XRCC2

X-ray repair cross complementing 2

OMIM:617247

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

XRCC4

X-ray repair cross complementing 4

OMIM:616541

NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787

Enlarged kidney

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG5

ALG5 dolichyl-phosphate beta-glucosyltransferase

ORPHA:730

NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:730

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

ANKS6

ankyrin repeat and sterile alpha motif domain containing 6

OMIM:615382

NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965

BICC1

BicC family RNA binding protein 1

ORPHA:730

NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435

BMPER

BMP binding endothelial regulator

OMIM:608022

NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427

CD81

CD81 molecule

OMIM:613496

NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802

CDKN1C

cyclin dependent kinase inhibitor 1C

OMIM:130650

NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775

CILK1

ciliogenesis associated kinase 1

OMIM:612651

NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824

CPT2

carnitine palmitoyltransferase 2

OMIM:608836

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

DHX16

DEAH-box helicase 16

ClinVar Annotator: match by term: Renal enlargement

PMID:31256877

NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006

DNAJB11

DnaJ heat shock protein family (Hsp40) member B11

ORPHA:730
ClinVar Annotator: match by term: Enlarged kidney

NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

OMIM:613091

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

DZIP1L

DAZ interacting zinc finger protein 1 like

ORPHA:731

NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818

FAH

fumarylacetoacetate hydrolase

OMIM:276700

NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946

FANCB

FA complementation group B

OMIM:314390

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

FIBP

FGF1 intracellular binding protein

ORPHA:500095

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

G6PC1

glucose-6-phosphatase catalytic subunit 1

OMIM:232200

NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438

GANAB

glucosidase II alpha subunit

ORPHA:730

NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

OMIM:252500

NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959

GPC3

glypican 3

OMIM:312870

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

GPC4

glypican 4

OMIM:312870

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

H19-ICR

H19/IGF2 imprinting control region

OMIM:130650

NCBI chr11:1,998,745...2,003,509

IFT140

intraflagellar transport 140

ORPHA:730

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

IGF2

insulin like growth factor 2

OMIM:130650

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

INSR

insulin receptor

ORPHA:508

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

INVS

inversin

OMIM:602088

NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175

KCNQ1

potassium voltage-gated channel subfamily Q member 1

OMIM:130650

NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105

KCNQ1OT1

KCNQ1 opposite strand/antisense transcript 1

OMIM:130650

NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994

MYRF

myelin regulatory factor

OMIM:618280

NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855

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

NEK8

NIMA related kinase 8

OMIM:615415

NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455

NPHP3

nephrocystin 3

OMIM:208540
ClinVar Annotator: match by term: Enlarged kidney

NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432

NPHP3-ACAD11

NPHP3-ACAD11 readthrough (NMD candidate)

ClinVar Annotator: match by term: Enlarged kidney

NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459

PIK3CA

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

ORPHA:276280

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

PKD1

polycystin 1, transient receptor potential channel interacting

ORPHA:730
ClinVar Annotator: match by term: Enlarged kidney

NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898

PKD1-AS1

PKD1 antisense RNA 1

ClinVar Annotator: match by term: Enlarged kidney

NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433

PKD2

polycystin 2, transient receptor potential cation channel

ORPHA:730
ClinVar Annotator: match by term: Enlarged kidney

NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

OMIM:263200
ClinVar Annotator: match by term: Enlarged kidney

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

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

OMIM:261740

NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,125

SAA1

serum amyloid A1

ORPHA:85445

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

SLC29A3

solute carrier family 29 member 3

ORPHA:168569

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SLC37A4

solute carrier family 37 member 4

ORPHA:79259

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

TCTN2

tectonic family member 2

OMIM:613885

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

TMEM67

transmembrane protein 67

ClinVar Annotator: match by term: Enlarged kidney

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

TULP3

TUB like protein 3

OMIM:619902

NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

OMIM:617303

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494

VPS45

vacuolar protein sorting 45 homolog

OMIM:615285

NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329

WT1 transcription factor

OMIM:608978

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

ZIC3

Zic family member 3

OMIM:306955

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

Fetal pyelectasis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BNC2

basonuclin 2

ORPHA:93110

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

CDC42BPB

CDC42 binding protein kinase beta

OMIM:619841

NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549

CLCN3

chloride voltage-gated channel 3

OMIM:619512

NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673

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

KANSL1

KAT8 regulatory NSL complex subunit 1

ORPHA:363958

NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389

LSM1

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Fetal pyelectasis

PMID:25741868 PMID:31010896

NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730

MYL9

myosin light chain 9

OMIM:619365

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

PI4KA

phosphatidylinositol 4-kinase alpha

OMIM:616531

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

TBCK

TBC1 domain containing kinase

OMIM:616900

NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683

ZBTB18

zinc finger and BTB domain containing 18

OMIM:612337

NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476

Focal segmental glomerulosclerosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTN4

actinin alpha 4

OMIM:603278
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 More...

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

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

OMIM:616032

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

APOL1

apolipoprotein L1

OMIM:612551
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More...

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

ARHGAP24

Rho GTPase activating protein 24

ORPHA:656
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

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

AXDND1

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More...

NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735

complement C2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673

complement C3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 More...

NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562

CD2AP

CD2 associated protein

OMIM:607832
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

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

CFB

complement factor B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086

CFH

complement factor H

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 More...

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

CFI

complement factor I

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:18825487 PMID:25741868 PMID:28492532

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

CLCN5

chloride voltage-gated channel 5

OMIM:308990

NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235

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

collagen type IV alpha 3 chain

ORPHA:656
ClinVar Annotator: match by term: focal and segmental glomerulosclerosis
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:11134255 PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 More...

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

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 More...

NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453

COL4A5

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 More...

NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545

COQ2

coenzyme Q2, polyprenyltransferase

OMIM:607426
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914

COQ6

coenzyme Q6, monooxygenase

OMIM:614650

NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670

COQ8B

coenzyme Q8B

OMIM:615573
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

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

CRB2

crumbs cell polarity complex component 2

OMIM:616220

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

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

EMP2

epithelial membrane protein 2

ORPHA:656

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

EYA1

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720

NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025

G6PC1

glucose-6-phosphatase catalytic subunit 1

OMIM:232200

NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438

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

GON7

GON7 subunit of KEOPS complex

OMIM:619603

NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065

INF2

inverted formin 2

OMIM:613237 OMIM:614455 ORPHA:656
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:20023659 PMID:20803156 PMID:21258034 PMID:21866090 PMID:23014460 More...

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

ITGA3

integrin subunit alpha 3

OMIM:614748

NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481

JAG1

jagged canonical Notch ligand 1

OMIM:118450

NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999

KIRREL1

kirre like nephrin family adhesion molecule 1

OMIM:619201

NCBI chr 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262

KIRREL2

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136

LAMA5

laminin subunit alpha 5

OMIM:620049

NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312

LAMB2

laminin subunit beta 2

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

LMX1B

LIM homeobox transcription factor 1 beta

OMIM:256020
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

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

LOC107982234

WT1/WT1-AS bi-directional promoter region

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More...

NCBI chr11:32,430,848...32,437,423

LOC112997540

Sharpr-MPRA regulatory region 13773

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:83,284,636...83,284,930

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

MFF-DT

MFF divergent transcript

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: focal and segmental glomerulosclerosis

PMID:11134255 PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 More...

NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711

MT-CO1

mitochondrially encoded cytochrome c oxidase I

ORPHA:550

NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445

MT-CO2

mitochondrially encoded cytochrome c oxidase II

ORPHA:550

NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269

MT-CO3

mitochondrially encoded cytochrome c oxidase III

ORPHA:550

NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ORPHA:550

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ORPHA:550

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ORPHA:550

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

ORPHA:550

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TF

mitochondrially encoded tRNA-Phe (UUU/C)

ORPHA:550

NCBI chr MT:577...647
Ensembl chr MT:577...647

MT-TH

mitochondrially encoded tRNA-His (CAU/C)

ORPHA:550

NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

ORPHA:550

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TQ

mitochondrially encoded tRNA-Gln (CAA/G)

ORPHA:550

NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

ORPHA:550

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

MT-TS2

mitochondrially encoded tRNA-Ser (AGU/C) 2

ORPHA:550

NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

ORPHA:550

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

MTX2

metaxin 2

OMIM:619127

NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025

MYH9

myosin heavy chain 9

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More...

NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010

MYO1E

myosin IE

OMIM:614131

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

MYO9A

myosin IXA

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:33412162

NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577

NARS2

asparaginyl-tRNA synthetase 2, mitochondrial

OMIM:616239

NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194

NLRP3

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More...

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

NOC3L

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959

NPHP1

nephrocystin 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NPHP3

nephrocystin 3

ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432

NPHP3-ACAD11

NPHP3-ACAD11 readthrough (NMD candidate)

ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459

NPHP4

nephrocystin 4

ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ORPHA:656

ClinVar
HPO

PMID:9915943 PMID:10652016 PMID:11317351 PMID:11726550 PMID:11854170 More...

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

NPHS2

NPHS2 stomatin family member, podocin

OMIM:600995
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More...

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

NUP107

nucleoporin 107

OMIM:616730 OMIM:618348 ORPHA:656

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

NUP133

nucleoporin 133

OMIM:618177 OMIM:618349 ORPHA:656

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

NUP160

nucleoporin 160

OMIM:618178

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

NUP205

nucleoporin 205

OMIM:616893

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

OMIM:618176

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

NUP93

nucleoporin 93

OMIM:616892
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:32581362

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

NXF5

nuclear RNA export factor 5

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:23686279

NCBI chr X:101,832,112...101,857,577
Ensembl chr X:101,832,537...101,843,278

paired box 2

OMIM:616002
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More...

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

PDSS2

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564

PLCE1

phospholipase C epsilon 1

OMIM:610725
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 More...

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

PLCE1-AS1

PLCE1 antisense RNA 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478

PTPRO

protein tyrosine phosphatase receptor type O

OMIM:614196

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

REG1A

regenerating family member 1 alpha

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409

REN

renin

OMIM:613092

NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324

RPGRIP1L

RPGRIP1 like

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532

NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938

SCARB2

scavenger receptor class B member 2

OMIM:254900
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532

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

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091

SEC61A1

SEC61 translocon subunit alpha 1

OMIM:617056

NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705

SGPL1

sphingosine-1-phosphate lyase 1

OMIM:617575

NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816

SLC12A3

solute carrier family 12 member 3

ORPHA:358

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

SLC17A5

solute carrier family 17 member 5

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532 PMID:29140481

NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992

SLC37A4

solute carrier family 37 member 4

OMIM:232240

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SMARCAL1

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

OMIM:242900
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

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

TBC1D8B

TBC1 domain family member 8B

OMIM:301028

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

TP53RK

TP53 regulating kinase

OMIM:617730

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

TPRKB

TP53RK binding protein

OMIM:617731

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

TRIM8

tripartite motif containing 8

ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:30244534 PMID:32193649 PMID:33508234

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

TRPC6

transient receptor potential cation channel subfamily C member 6

OMIM:603965
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 More...

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

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

OMIM:617303

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494

WDR4

WD repeat domain 4

OMIM:618347

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

WDR73

WD repeat domain 73

OMIM:251300

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

WT1 transcription factor

OMIM:136680 OMIM:194080 OMIM:256370 ORPHA:347 ORPHA:656
ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 More...

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

Global glomerulosclerosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BSND

barttin CLCNK type accessory subunit beta

OMIM:602522

NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855

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

WD repeat domain 19

OMIM:616307

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

Glomerular basement membrane disruption

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CD151

CD151 molecule (Raph blood group)

OMIM:609057

NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831

Glomerular basement membrane lamellation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

collagen type IV alpha 3 chain

OMIM:104200 OMIM:203780

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

collagen type IV alpha 4 chain

OMIM:203780

NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453

COL4A5

collagen type IV alpha 5 chain

OMIM:301050

NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545

Glomerular deposits

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

fibronectin 1

OMIM:601894

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

MME

membrane metalloendopeptidase

ORPHA:69063

NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704

Glomerular sclerosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CLCN5

chloride voltage-gated channel 5

OMIM:310468

NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235

COQ2

coenzyme Q2, polyprenyltransferase

OMIM:607426

NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914

DLST

dihydrolipoamide S-succinyltransferase

ORPHA:29072

NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743

DNMT3A

DNA methyltransferase 3 alpha

ORPHA:276621

NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590

ELP1

elongator acetyltransferase complex subunit 1

OMIM:223900

NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328

EPAS1

endothelial PAS domain protein 1

ORPHA:276621

NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697

FAH

fumarylacetoacetate hydrolase

OMIM:276700

NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946

fumarate hydratase

ORPHA:29072

NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799

ITGB4

integrin subunit beta 4

ORPHA:158684

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

KIF1B

kinesin family member 1B

ORPHA:29072

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

LAGE3

L antigen family member 3

OMIM:301006

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

MAX

MYC associated factor X

ORPHA:29072

NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695

MDH2

malate dehydrogenase 2

ORPHA:29072

NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508

MUC1

mucin 1, cell surface associated

OMIM:174000

NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916

NF1

neurofibromin 1

ORPHA:29072

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NOS1AP

nitric oxide synthase 1 adaptor protein

OMIM:619155

NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475

NPHS1 adhesion molecule, nephrin

OMIM:256300

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

OSGEP

O-sialoglycoprotein endopeptidase

OMIM:617729

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

PLEC

plectin

ORPHA:158684

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

RET

ret proto-oncogene

ORPHA:29072

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

RNU7-1

RNA, U7 small nuclear 1

OMIM:619487

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

SDHA

succinate dehydrogenase complex flavoprotein subunit A

ORPHA:29072

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

SDHAF2

succinate dehydrogenase complex assembly factor 2

ORPHA:29072

NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,733

SDHB

succinate dehydrogenase complex iron sulfur subunit B

ORPHA:29072

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:29072

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:29072

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

SLC25A11

solute carrier family 25 member 11

ORPHA:29072

NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053

TMEM127

transmembrane protein 127

ORPHA:29072

NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,265,997

TREX1

three prime repair exonuclease 1

ORPHA:247691

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

TRIM8

tripartite motif containing 8

OMIM:619428

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

VHL

von Hippel-Lindau tumor suppressor

ORPHA:29072

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

Glomerular subendothelial electron-dense deposits

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CFH

complement factor H

OMIM:609814
ClinVar Annotator: match by term: Membranoproliferative glomerulonephritis type II

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

CFHR5

complement factor H related 5

ClinVar Annotator: match by term: Membranoproliferative glomerulonephritis type II

NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678

Glomerular subepithelial immune-complex deposits

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

WD repeat domain 19

OMIM:616307

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

Glomerulomegaly

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

fibronectin 1

OMIM:601894

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

Glomerulonephritis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALMS1

ALMS1 centrosome and basal body associated protein

ORPHA:64

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

APOL1

apolipoprotein L1

ClinVar Annotator: match by term: Glomerulonephritis

PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More...

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

C4A

complement C4A (Rodgers blood group)

OMIM:614380

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

CASP10

caspase 10

ORPHA:3261

NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428

CD81

CD81 molecule

OMIM:613496

NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802

CEL

carboxyl ester lipase

ClinVar Annotator: match by term: Glomerular nephritis

PMID:18414213 PMID:25741868

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

CFHR5

complement factor H related 5

OMIM:614809

NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678

CFI

complement factor I

OMIM:610984

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

collagen type IV alpha 3 chain

OMIM:104200

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

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Glomerulonephritis

PMID:12325029 PMID:17216251 PMID:21196518 PMID:24052634 PMID:24854265 More...

NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453

COL7A1

collagen type VII alpha 1 chain

ORPHA:79408

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

DGKE

diacylglycerol kinase epsilon

OMIM:615008

NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567

FAS

Fas cell surface death receptor

ORPHA:3261

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

FASLG

Fas ligand

ORPHA:3261

NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876

FCGR2A

Fc gamma receptor IIa

DNA:missense mutation:cds:p.H131R

RGD

PMID:15004265

RGD:5147975

NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013

FOXP3

forkhead box P3

OMIM:304790

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

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

susceptibility

DNA:polymorphisms:cds:HLA-DRB1*1501 (human)

RGD

PMID:12651073

RGD:40902999

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

INF2

inverted formin 2

ClinVar Annotator: match by term: Glomerulonephritis

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

LAMB2

laminin subunit beta 2

ClinVar Annotator: match by term: Glomerulonephritis

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

LMX1B

LIM homeobox transcription factor 1 beta

OMIM:161200

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

MME

membrane metalloendopeptidase

ORPHA:69063

NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704

MMP1

matrix metallopeptidase 1

ORPHA:79408

NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160

MYH9

myosin heavy chain 9

ClinVar Annotator: match by term: Glomerular nephritis

NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Glomerular nephritis

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

PLCE1

phospholipase C epsilon 1

ClinVar Annotator: match by term: Glomerular nephritis

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

PRKCD

protein kinase C delta

ORPHA:3261

NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717

RASGRP1

RAS guanyl releasing protein 1

ORPHA:3261

NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575

SOCS1

suppressor of cytokine signaling 1

OMIM:619375

NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204

TRIM8

tripartite motif containing 8

OMIM:619428

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

WD repeat domain 19

OMIM:614376

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

Glomerulopathy

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACSL4

acyl-CoA synthetase long chain family member 4

ORPHA:86818

NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403

AMMECR1

AMMECR nuclear protein 1

ORPHA:86818

NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318

APOE

apolipoprotein E

OMIM:611771

NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393

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

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

COL4A5

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Glomerulopathy

PMID:9848783 PMID:11223851 PMID:12028435 PMID:17396119 PMID:19728970 More...

NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545

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

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

ELP1

elongator acetyltransferase complex subunit 1

ORPHA:1764

NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328

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

fibronectin 1

ORPHA:84090

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

FOXC2

forkhead box C2

ORPHA:33001

NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728

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

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

HNF1B

HNF1 homeobox B

ORPHA:93111

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

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

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

KCNE5

potassium voltage-gated channel subfamily E regulatory subunit 5

ORPHA:86818

NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172

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

LMNA

lamin A/C

ORPHA:2348

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

LMNB2

lamin B2

ORPHA:79087

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

LMX1B

LIM homeobox transcription factor 1 beta

ORPHA:2613

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

LPIN2

lipin 2

ORPHA:77297

NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144

MEFV

MEFV innate immunity regulator, pyrin

ORPHA:117

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

MMACHC

metabolism of cobalamin associated C

ORPHA:79282

NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382

MT-TE

mitochondrially encoded tRNA-Glu (GAA/G)

ORPHA:225

NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

ORPHA:225

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

ORPHA:225

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

ORPHA:2169

NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025

OCRL

OCRL inositol polyphosphate-5-phosphatase

ORPHA:534

NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561

PRTN3

proteinase 3

ORPHA:900

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

PTPN22

protein tyrosine phosphatase non-receptor type 22

ORPHA:900

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

SCARB2

scavenger receptor class B member 2

OMIM:254900

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

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

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

UBAC2

UBA domain containing 2

ORPHA:117

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

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

WT1 transcription factor

ORPHA:347

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

Horseshoe kidney

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA2

adenosine deaminase 2

ORPHA:124

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

ADAMTS3

ADAM metallopeptidase with thrombospondin type 1 motif 3

ORPHA:2136

NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221

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

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

ARID1A

AT-rich interaction domain 1A

ORPHA:1465

NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104

ARID1B

AT-rich interaction domain 1B

ORPHA:1465

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

ARID2

AT-rich interaction domain 2

ORPHA:1465

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

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

BMPER

BMP binding endothelial regulator

OMIM:608022

NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427

CAPN15

calpain 15

ClinVar Annotator: match by term: Horseshoe kidneys
OMIM:619318

ClinVar
HPO

NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636

CC2D2A

coiled-coil and C2 domain containing 2A

OMIM:612284

NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552

CCBE1

collagen and calcium binding EGF domains 1

OMIM:235510 ORPHA:2136

NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662

CCNQ

cyclin Q

ORPHA:140952

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CD96

CD96 molecule

ORPHA:1308

NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750

CFAP418

cilia and flagella associated protein 418

OMIM:617406

NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201

CHD7

chromodomain helicase DNA binding protein 7

OMIM:214800 ORPHA:138

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

CHST14

carbohydrate sulfotransferase 14

ORPHA:2953

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

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

OMIM:613630

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

COLEC10

collectin subfamily member 10

OMIM:248340

NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455

COLEC11

collectin subfamily member 11

OMIM:265050

NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644

CWC27

CWC27 spliceosome associated cyclophilin

OMIM:250410

NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412

DDB1

damage specific DNA binding protein 1

OMIM:619426

NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596

DDX59

DEAD-box helicase 59

OMIM:174300

NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907

DKC1

dyskerin pseudouridine synthase 1

OMIM:305000

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

DPF2

double PHD fingers 2

ORPHA:1465

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DSE

dermatan sulfate epimerase

ORPHA:2953

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

DSTYK

dual serine/threonine and tyrosine protein kinase

ORPHA:101003

NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

OMIM:617088

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

OMIM:216100 OMIM:268300 ORPHA:2319

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

EXTL3

exostosin like glycosyltransferase 3

ORPHA:508533

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

FA complementation group A

OMIM:227650

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

FA complementation group C

OMIM:227645

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

FANCD2

FA complementation group D2

OMIM:227646

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

FA complementation group E

OMIM:600901

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

FANCI

FA complementation group I

OMIM:609053

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

FAT4

FAT atypical cadherin 4

ORPHA:2136

NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932

FGFR2

fibroblast growth factor receptor 2

ORPHA:93260

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

GATA1

GATA binding protein 1

ORPHA:124

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

GRB10

growth factor receptor bound protein 10

ORPHA:96182

NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462

GREB1L

GREB1 like retinoic acid receptor coactivator

OMIM:617805

NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112

HMGA2

high mobility group AT-hook 2

ORPHA:94063

NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291

HNF1B

HNF1 homeobox B

ORPHA:93111

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

OMIM:620083

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

HNRNPU

heterogeneous nuclear ribonucleoprotein U

ORPHA:238769

NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560

HRAS

HRas proto-oncogene, GTPase

OMIM:163200

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

KAT5

lysine acetyltransferase 5

OMIM:619103

NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604

KDM6A

lysine demethylase 6A

OMIM:300867

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KRAS

KRAS proto-oncogene, GTPase

OMIM:163200

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

LEMD3

LEM domain containing 3

ORPHA:94063

NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355

MAP3K7

mitogen-activated protein kinase kinase kinase 7

OMIM:157800

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

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

MRPS34

mitochondrial ribosomal protein S34

OMIM:617664

NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150

MYCN

MYCN proto-oncogene, bHLH transcription factor

ORPHA:391641

NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007

NRAS

NRAS proto-oncogene, GTPase

OMIM:163200

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

PACS1

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Horseshoe kidney

PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More...

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

paired box 2

OMIM:120330

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

PBX homeobox 1

OMIM:617641

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

POR

cytochrome p450 oxidoreductase

OMIM:201750

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

PORCN

porcupine O-acyltransferase

OMIM:305600 ORPHA:2092

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

PUF60

poly(U) binding splicing factor 60

ORPHA:508498

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RARB

retinoic acid receptor beta

ORPHA:2470

NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932

RBM10

RNA binding motif protein 10

OMIM:311900 ORPHA:2886

NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813

RBM8A

RNA binding motif protein 8A

OMIM:274000 ORPHA:3320

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

RPL11

ribosomal protein L11

OMIM:612562

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

RPL15

ribosomal protein L15

ORPHA:124

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

RPL18

ribosomal protein L18

ORPHA:124

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

RPL26

ribosomal protein L26

ORPHA:124

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

RPL27

ribosomal protein L27

ORPHA:124

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

RPL31

ribosomal protein L31

ORPHA:124

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

RPL35

ribosomal protein L35

ORPHA:124

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

RPL35A

ribosomal protein L35a

ORPHA:124

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

RPL5

ribosomal protein L5

ORPHA:124

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

RPS10

ribosomal protein S10

ORPHA:124

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

RPS15A

ribosomal protein S15a

ORPHA:124

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

RPS17

ribosomal protein S17

ORPHA:124

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

RPS19

ribosomal protein S19

ORPHA:124

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

RPS20

ribosomal protein S20

ORPHA:124

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

RPS24

ribosomal protein S24

ORPHA:124