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Table 2 List of available IRD genesa and their respective Ontology of Genes and Genomes (OGG) and Mendelian Inheritance in Man (MIM) numbers

From: Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT

ABCA4

OGG:3000000024

MIM:601691

LRAT

OGG:3000009227

MIM:604863

ABCC6

OGG:3000000368

MIM:603234

MAK

OGG:3000004117

MIM:154235

ADGRV1

OGG:3000084059

MIM:602851

MERTK

OGG:3000010461

MIM:604705

AIPL1

OGG:3000023746

MIM:604392

MT-ND1

OGG:3000004535

MIM:516000

ALMS1

OGG:3000007840

MIM:606844

MT-ND4

OGG:3000004538

MIM:516003

BBS1

OGG:3000000582

MIM:209901

MT-ND4L

OGG:3000004539

MIM:516004

BBS10

OGG:3000079738

MIM:610148

MT-ND6

OGG:3000004541

MIM:516006

BBS12

OGG:3000166379

MIM:610683

MT-TL1

OGG:3000004567

MIM:590050

BBS2

OGG:3000000583

MIM:606151

MYO7A

OGG:3000004647

MIM:276903

BBS3/ARL6

OGG:3000084100

MIM:608845

NMNAT1

OGG:3000064802

MIM:608700

BBS4

OGG:3000000585

MIM:600374

NR2E3

OGG:3000010002

MIM:604485

BBS5

OGG:3000129880

MIM:603650

NRL

OGG:3000004901

MIM:162080

BBS7

OGG:3000055212

MIM:607590

NYX

OGG:3000060506

MIM:300278

BBS9

OGG:3000027241

MIM:607968

OAT

OGG:3000004942

MIM:613349

BEST1

OGG:3000007439

MIM:607854

OPA1

OGG:3000004976

MIM:605290

C1QTNF5

OGG:3000114902

MIM:608752

OPN1LW

OGG:3000005956

MIM:300822

CACNA1F

OGG:3000000778

MIM:300110

PANK2

OGG:3000080025

MIM:606157

CDH23

OGG:3000064072

MIM:605516

PAX6

OGG:3000005080

MIM:607108

CEP290

OGG:3000080184

MIM:610142

PCARE

OGG:3000388939

MIM:613425

CERKL

OGG:3000001399

MIM:608381

PDE6A

OGG:3000005145

MIM:180071

CFH

OGG:3000003075

MIM:134370

PDE6B

OGG:3000005158

MIM:180072

CHM

OGG:3000001121

MIM:300390

PDE6C

OGG:3000005146

MIM:600827

CLN3

OGG:3000001201

MIM:607042

PDE6G

OGG:3000005148

MIM:180073

CLRN1

OGG:3000007401

MIM:606397

PHYH

OGG:3000005264

MIM:602026

CNGA3

OGG:3000001261

MIM:600053

POC1B

OGG:3000282809

MIM:614784

CNGB1

OGG:3000001258

MIM:600724

PRCD

OGG:3000768206

MIM:610598

CNGB3

OGG:3000054714

MIM:605080

PROM1

OGG:3000008842

MIM:604365

CNNM4

OGG:3000026504

MIM:607805

PRPF3

OGG:3000009129

MIM:607301

COL2A1

OGG:3000001280

MIM:120140

PRPF31

OGG:3000026121

MIM:606419

COL4A3

OGG:3000001285

MIM:120070

PRPF8

OGG:3000010594

MIM:607300

COL4A4

OGG:3000001286

MIM:120131

PRPH2 (RDS)

OGG:3000005961

MIM:179605

COL4A5

OGG:3000001287

MIM:303630

RDH12

OGG:3000145226

MIM:608830

CRB1

OGG:3000023418

MIM:604210

RDH5

OGG:3000005959

MIM:601617

CRX

OGG:3000001406

MIM:602225

RHO

OGG:3000006010

MIM:180380

CYP4V2

OGG:3000285440

MIM:608614

RIMS1

OGG:3000022999

MIM:606629

DHDDS

OGG:3000079947

MIM:608172

RLBP1

OGG:3000006017

MIM:180090

EFEMP1

OGG:3000002202

MIM:601548

RP1

OGG:3000006101

MIM:3937

ELOVL4

OGG:3000006785

MIM:605512

RP2

OGG:3000006102

MIM:300757

EYS

OGG:3000346007

MIM:612424

RPE65

OGG:3000006121

MIM:180069

FAM161A

OGG:3000084140

MIM:613596

RPGR

OGG:3000006103

MIM:312610

GNAT1

OGG:3000002779

MIM:139330

RPGRIP1

OGG:3000057096

MIM:605446

GNAT2

OGG:3000002780

MIM:139340

RS1

OGG:3000006247

MIM:300839

GPR98

OGG:3000084059

MIM:602851

SAG

OGG:3000006295

MIM:181031

GRK1

OGG:3000006011

MIM:180381

SEMA4A

OGG:3000064218

MIM:607292

GUCA1A

OGG:3000002978

MIM:600364

SNRNP200

OGG:3000023020

MIM:601664

GUCA1B

OGG:3000002979

MIM:602275

SPATA7

OGG:3000055812

MIM:609868

GUCY2D

OGG:3000003000

MIM:600179

TIMP3

OGG:3000007078

MIM:188826

HGSNAT

OGG:3000138050

MIM:610453

TOPORS

OGG:3000010210

MIM:609507

IMPDH1 (RP10)

OGG:3000003614

MIM:146690

TULP1

OGG:3000007287

MIM:602280

IMPG1

OGG:3000003617

MIM:602870

USH1G

OGG:3000124590

MIM:607696

IMPG2

OGG:3000050939

MIM:607056

USH2A

OGG:3000007399

MIM:608400

IQCB1

OGG:3000009657

MIM:609237

VCAN

OGG:3000001462

MIM:118661

KCNV2

OGG:3000169522

MIM:607604

WDR19

OGG:3000057728

MIM:608151

KLHL7

OGG:3000055975

MIM:11119

Other

N/A

N/A

LCA5

OGG:3000167691

MIM:611408

Inconclusive

N/A

N/A

  1. aThe user may select one, two or more genes in case clinically relevant variants are found in more than one gene. This list may be edited with newer additions in case other genes are found in the Portuguese population with IRDs