Retinitis Pigmentosa(Tapetoretinal degeneration) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant, MT inheritance mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant, MT inheritance mode(s) within the Eye disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | FAM161A/84140 | FAM161 centrosomal protein A | 2p15 | Chr2, NC_000002.12 (61800240..61854060, complement) |
53821 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PCARE/388939 | photoreceptor cilium actin regulator | 2p23.2 | Chr2, NC_000002.12 (29061695..29074523, complement) |
12829 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | EYS/346007 | eyes shut homolog | 6q12 | Chr6, NC_000006.12 (63719980..65707226, complement) |
1987247 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KLHL7/55975 | kelch like family member 7 | 7p15.3 | Chr7, NC_000007.14 (23105785..23177914) |
72130 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | TOPORS/10210 | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | 9p21.1 | Chr9, NC_000009.12 (32540544..32552586, complement) |
12043 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ARL6/84100 | ADP ribosylation factor like GTPase 6 | 3q11.2 | Chr3, NC_000003.12 (97764521..97801242) |
36722 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | RDH12/145226 | retinol dehydrogenase 12 | 14q24.1 | Chr14, NC_000014.9 (67701886..67734451) |
32566 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | USH2A/7399 | usherin | 1q41 | Chr1, NC_000001.11 (215622891..216423448, complement) |
800558 nt | 72 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CERKL/375298 | ceramide kinase like | 2q31.3 | Chr2, NC_000002.12 (181536672..181657105, complement) |
120434 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | TTC8/123016 | tetratricopeptide repeat domain 8 | 14q31.3 | Chr14, NC_000014.9 (88824153..88881079) |
56927 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | BEST1/7439 | bestrophin 1 | 11q12.3 | Chr11, NC_000011.10 (61949821..61965515) |
15695 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | PRPF3/9129 | pre-mRNA processing factor 3 | 1q21.2 | Chr1, NC_000001.11 (150321468..150353233) |
31766 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | PRPF8/10594 | pre-mRNA processing factor 8 | 17p13.3 | Chr17, NC_000017.11 (1650629..1684867, complement) |
34239 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | IMPG2/50939 | interphotoreceptor matrix proteoglycan 2 | 3q12.3 | Chr3, NC_000003.12 (101222546..101320575, complement) |
98030 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | POMGNT1/55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1p34.1 | Chr1, NC_000001.11 (46188683..46220305, complement) |
31623 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | PRPF31/26121 | pre-mRNA processing factor 31 | 19q13.42 | Chr19, NC_000019.10 (54115754..54131713) |
15960 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | LRAT/9227 | lecithin retinol acyltransferase | 4q32.1 | Chr4, NC_000004.12 (154740838..154753120) |
12283 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | MERTK/10461 | MER proto-oncogene, tyrosine kinase | 2q13 | Chr2, NC_000002.12 (111898607..112029561) |
130955 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | IDH3B/3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | 20p13 | Chr20, NC_000020.11 (2658395..2664216, complement) |
5822 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | NR2E3/10002 | nuclear receptor subfamily 2 group E member 3 | 15q23 | Chr15, NC_000015.10 (71810554..71818253) |
7700 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | PROM1/8842 | prominin 1 | 4p15.32 | Chr4, NC_000004.12 (15968228..16084023, complement) |
115796 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | CRB1/23418 | crumbs cell polarity complex component 1 | 1q31.3 | Chr1, NC_000001.11 (197201504..197478455) |
276952 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | RP1/6101 | RP1 axonemal microtubule associated | 8q12.1 | Chr8, NC_000008.11 (54559185..54871234) |
312050 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | TULP1/7287 | TUB like protein 1 | 6p21.31 | Chr6, NC_000006.12 (35497874..35512896, complement) |
15023 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | SNRNP200/23020 | small nuclear ribonucleoprotein U5 subunit 200 | 2q11.2 | Chr2, NC_000002.12 (96274338..96305546, complement) |
31209 nt | 45 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | CNGB1/1258 | cyclic nucleotide gated channel subunit beta 1 | 16q21 | Chr16, NC_000016.10 (57882340..57971128, complement) |
88789 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | RGR/5995 | retinal G protein coupled receptor | 10q23.1 | Chr10, NC_000010.11 (84245053..84259960) |
14908 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | RPGR/6103 | retinitis pigmentosa GTPase regulator | Xp11.4 | ChrX, NC_000023.11 (38269163..38327509, complement) |
58347 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | RP2/6102 | RP2 activator of ARL3 GTPase | Xp11.3 | ChrX, NC_000023.11 (46837043..46882358) |
45316 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | ROM1/6094 | retinal outer segment membrane protein 1 | 11q12.3 | Chr11, NC_000011.10 (62613257..62615116) |
1860 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | RHO/6010 | rhodopsin | 3q22.1 | Chr3, NC_000003.12 (129528639..129535344) |
6706 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | PDE6G/5148 | phosphodiesterase 6G | 17q25.3 | Chr17, NC_000017.11 (81650459..81663127, complement) |
12669 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | PDE6B/5158 | phosphodiesterase 6B | 4p16.3 | Chr4, NC_000004.12 (625573..670782) |
45210 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | PDE6A/5145 | phosphodiesterase 6A | 5q32 | Chr5, NC_000005.10 (149857953..149944793, complement) |
86841 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | PRPH2/5961 | peripherin 2 | 6p21.1 | Chr6, NC_000006.12 (42696598..42722597, complement) |
26000 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 36 | NRL/4901 | neural retina leucine zipper | 14q11.2 | Chr14, NC_000014.9 (24078662..24114949, complement) |
36288 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 37 | IMPDH1/3614 | inosine monophosphate dehydrogenase 1 | 7q32.1 | Chr7, NC_000007.14 (128392277..128409982, complement) |
17706 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 38 | CNGA1/1259 | cyclic nucleotide gated channel subunit alpha 1 | 4p12 | Chr4, NC_000004.12 (47935977..48016681, complement) |
80705 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 39 | CA4/762 | carbonic anhydrase 4 | 17q23.1 | Chr17, NC_000017.11 (60149973..60179021) |
29049 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 40 | MAK/4117 | male germ cell associated kinase | 6p24.2 | Chr6, NC_000006.12 (10762723..10838539, complement) |
75817 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 41 | CLRN1/7401 | clarin 1 | 3q25.1 | Chr3, NC_000003.12 (150926163..150972999, complement) |
46837 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 42 | DHDDS/79947 | dehydrodolichyl diphosphate synthase subunit | 1p36.11 | Chr1, NC_000001.11 (26432321..26471306) |
38986 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 43 | CFAP418/157657 | cilia and flagella associated protein 418 | 8q22.1 | Chr8, NC_000008.11 (95244913..95269201, complement) |
24289 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 44 | PRCD/768206 | photoreceptor disc component | 17q25.1 | Chr17, NC_000017.11 (76527586..76553580) |
25995 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 45 | CDHR1/92211 | cadherin related family member 1 | 10q23.1 | Chr10, NC_000010.11 (84194537..84219621) |
25085 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 46 | RBP3/5949 | retinol binding protein 3 | 10q11.22 | Chr10, NC_000010.11 (47348363..47357881) |
9519 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 47 | RP1L1/94137 | RP1 like 1 | 8p23.1 | Chr8, NC_000008.11 (10606349..10655143, complement) |
48795 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 48 | ARL2BP/23568 | ADP ribosylation factor like GTPase 2 binding protein | 16q13 | Chr16, NC_000016.10 (57245259..57253635) |
8377 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 49 | NEK2/4751 | NIMA related kinase 2 | 1q32.3 | Chr1, NC_000001.11 (211658256..211675621, complement) |
17366 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 50 | OFD1/8481 | OFD1 centriole and centriolar satellite protein | Xp22.2 | ChrX, NC_000023.11 (13714505..13773738) |
59234 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 51 | SLC7A14/57709 | solute carrier family 7 member 14 | 3q26.2 | Chr3, NC_000003.12 (170459548..170586075, complement) |
126528 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 52 | KIZ/55857 | kizuna centrosomal protein | 20p11.23 | Chr20, NC_000020.11 (21125975..21246622) |
120648 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 53 | PRPF4/9128 | pre-mRNA processing factor 4 | 9q32 | Chr9, NC_000009.12 (113275658..113292905) |
17248 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 54 | MYO7A/4647 | myosin VIIA | 11q13.5 | Chr11, NC_000011.10 (77128246..77215241) |
86996 nt | 56 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 55 | CRX/1406 | cone-rod homeobox | 19q13.33 | Chr19, NC_000019.10 (47821937..47843324) |
21388 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 56 | PRPF6/24148 | pre-mRNA processing factor 6 | 20q13.33 | Chr20, NC_000020.11 (63981132..64033100) |
51969 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 57 | RDH11/51109 | retinol dehydrogenase 11 | 14q24.1 | Chr14, NC_000014.9 (67676800..67695764, complement) |
18965 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 58 | IFT140/9742 | intraflagellar transport 140 | 16p13.3 | Chr16, NC_000016.10 (1510427..1612072, complement) |
101646 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 59 | PANK2/80025 | pantothenate kinase 2 | 20p13 | Chr20, NC_000020.11 (3888781..3929887) |
41107 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 60 | IFT172/26160 | intraflagellar transport 172 | 2p23.3 | Chr2, NC_000002.12 (27444377..27489743, complement) |
45367 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 61 | ZNF408/79797 | zinc finger protein 408 | 11p11.2 | Chr11, NC_000011.10 (46701031..46705912) |
4882 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 62 | HGSNAT/138050 | heparan-alpha-glucosaminide N-acetyltransferase | 8p11.21 | Chr8, NC_000008.11 (43140464..43202855) |
62392 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 63 | BBS2/583 | Bardet-Biedl syndrome 2 | 16q13 | Chr16, NC_000016.10 (56470403..56520024, complement) |
49622 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 64 | TRNT1/51095 | tRNA nucleotidyl transferase 1 | 3p26.2 | Chr3, NC_000003.12 (3126940..3153435) |
26496 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 65 | AGBL5/60509 | AGBL carboxypeptidase 5 | 2p23.3 | Chr2, NC_000002.12 (27050364..27070618) |
20255 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 66 | RCBTB1/55213 | RCC1 and BTB domain containing protein 1 | 13q14.2 | Chr13, NC_000013.11 (49531946..49585558, complement) |
53613 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 67 | RLBP1/6017 | retinaldehyde binding protein 1 | 15q26.1 | Chr15, NC_000015.10 (89209869..89221579, complement) |
11711 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 68 | SEMA4A/64218 | semaphorin 4A | 1q22 | Chr1, NC_000001.11 (156147373..156177744) |
30372 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 69 | ZNF513/130557 | zinc finger protein 513 | 2p23.3 | Chr2, NC_000002.12 (27377235..27380734, complement) |
3500 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 70 | SAG/6295 | S-antigen visual arrestin | 2q37.1 | Chr2, NC_000002.12 (233307816..233347055) |
39240 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 71 | GUCA1B/2979 | guanylate cyclase activator 1B | 6p21.1 | Chr6, NC_000006.12 (42183284..42194956, complement) |
11673 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 72 | PCDH15/65217 | protocadherin related 15 | 10q21.1 | Chr10, NC_000010.11 (53802771..55627942, complement) |
1825172 nt | 47 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 73 | CDH23/64072 | cadherin related 23 | 10q22.1 | Chr10, NC_000010.11 (71396920..71815947) |
419028 nt | 71 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 74 | AIPL1/23746 | aryl hydrocarbon receptor interacting protein like 1 | 17p13.2 | Chr17, NC_000017.11 (6423738..6435121, complement) |
11384 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 75 | SPATA7/55812 | spermatogenesis associated 7 | 14q31.3 | Chr14, NC_000014.9 (88385657..88470350) |
84694 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 76 | REEP6/92840 | receptor accessory protein 6 | 19p13.3 | Chr19, NC_000019.10 (1491181..1497927) |
6747 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 77 | ARHGEF18/23370 | Rho/Rac guanine nucleotide exchange factor 18 | 19p13.2 | Chr19, NC_000019.10 (7348937..7479989) |
131053 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 78 | HK1/3098 | hexokinase 1 | 10q22.1 | Chr10, NC_000010.11 (69270000..69401882) |
131883 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 79 | SCAPER/49855 | S-phase cyclin A associated protein in the ER | 15q24.3 | Chr15, NC_000015.10 (76347904..76905340, complement) |
557437 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 80 | CYP4V2/285440 | cytochrome P450 family 4 subfamily V member 2 | 4q35.1 | Chr4, NC_000004.12 (186191567..186213463) |
21897 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 81 | AHI1/54806 | Abelson helper integration site 1 | 6q23.3 | Chr6, NC_000006.12 (135283532..135497740, complement) |
214209 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 82 | BBS1/582 | Bardet-Biedl syndrome 1 | 11q13.2 | Chr11, NC_000011.10 (66510635..66533598) |
22964 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 83 | BBS10/79738 | Bardet-Biedl syndrome 10 | 12q21.2 | Chr12, NC_000012.12 (76344474..76348415, complement) |
3942 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 84 | CEP290/80184 | centrosomal protein 290 | 12q21.32 | Chr12, NC_000012.12 (88049016..88142088, complement) |
93073 nt | 60 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 85 | RPGRIP1/57096 | RPGR interacting protein 1 | 14q11.2 | Chr14, NC_000014.9 (21280083..21351301) |
71219 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 86 | CFAP410/755 | cilia and flagella associated protein 410 | 21q22.3 | Chr21, NC_000021.9 (44328944..44339390, complement) |
10447 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 87 | CLN3/1201 | CLN3 lysosomal/endosomal transmembrane protein, battenin | 16p12.1 | Chr16, NC_000016.10 (28466653..28492082, complement) |
25430 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 88 | COL18A1/80781 | collagen type XVIII alpha 1 chain | 21q22.3 | Chr21, NC_000021.9 (45405165..45513720) |
108556 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 89 | EXOSC2/23404 | exosome component 2 | 9q34.12 | Chr9, NC_000009.12 (130693760..130704894) |
11135 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 90 | IFT43/112752 | intraflagellar transport 43 | 14q24.3 | Chr14, NC_000014.9 (75985763..76084073) |
98311 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 91 | VSX2/338917 | visual system homeobox 2 | 14q24.3 | Chr14, NC_000014.9 (74239449..74262738) |
23290 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 92 | TTLL5/23093 | tubulin tyrosine ligase like 5 | 14q24.3 | Chr14, NC_000014.9 (75661246..75955079) |
293834 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 93 | SLC24A1/9187 | solute carrier family 24 member 1 | 15q22.31 | Chr15, NC_000015.10 (65611350..65661002) |
49653 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 94 | ARL3/403 | ADP ribosylation factor like GTPase 3 | 10q24.32 | Chr10, NC_000010.11 (102673731..102714397, complement) |
40667 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 95 | DHX38/9785 | DEAH-box helicase 38 | 16q22.2 | Chr16, NC_000016.10 (72093847..72112912) |
19066 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 96 | POC5/134359 | POC5 centriolar protein | 5q13.3 | Chr5, NC_000005.10 (75674124..75717437, complement) |
43314 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 97 | AHR/196 | aryl hydrocarbon receptor | 7p21.1 | Chr7, NC_000007.14 (17298652..17346147) |
47496 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 98 | ADGRV1/84059 | adhesion G protein-coupled receptor V1 | 5q14.3 | Chr5, NC_000005.10 (90558797..91164437) |
605641 nt | 91 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 99 | CHM/1121 | CHM Rab escort protein | Xq21.2 | ChrX, NC_000023.11 (85861180..86047558, complement) |
186379 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 100 | CACNA1F/778 | calcium voltage-gated channel subunit alpha1 F | Xp11.23 | ChrX, NC_000023.11 (49205063..49233340, complement) |
28278 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 101 | ALMS1/7840 | ALMS1 centrosome and basal body associated protein | 2p13.1 | Chr2, NC_000002.12 (73385758..73609919) |
224162 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 102 | BBS12/166379 | Bardet-Biedl syndrome 12 | 4q27 | Chr4, NC_000004.12 (122700442..122744939) |
44498 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 103 | BBS9/27241 | Bardet-Biedl syndrome 9 | 7p14.3 | Chr7, NC_000007.14 (33129285..33635767) |
506483 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 104 | RDH5/5959 | retinol dehydrogenase 5 | 12q13.2 | Chr12, NC_000012.12 (55720393..55724705) |
4313 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 105 | CDH3/1001 | cadherin 3 | 16q22.1 | Chr16, NC_000016.10 (68645310..68733771) |
88462 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 106 | LARGE1/9215 | LARGE xylosyl- and glucuronyltransferase 1 | 22q12.3 | Chr22, NC_000022.11 (33066663..33922824, complement) |
856162 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 107 | KIAA1549/57670 | KIAA1549 | 7q34 | Chr7, NC_000007.14 (138831381..138981389, complement) |
150009 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 108 | P3H2/55214 | prolyl 3-hydroxylase 2 | 3q28 | Chr3, NC_000003.12 (189956728..190122278, complement) |
165551 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 109 | GNAT1/2779 | G protein subunit alpha transducin 1 | 3p21.31 | Chr3, NC_000003.12 (50191610..50197696) |
6087 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 110 | IDH3A/3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | 15q25.1 | Chr15, NC_000015.10 (78149362..78171945) |
22584 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 111 | BBS7/55212 | Bardet-Biedl syndrome 7 | 4q27 | Chr4, NC_000004.12 (121824329..121870474, complement) |
46146 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 112 | LCA5/167691 | lebercilin LCA5 | 6q14.1 | Chr6, NC_000006.12 (79484991..79538782, complement) |
53792 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 113 | VPS13B/157680 | vacuolar protein sorting 13 homolog B | 8q22.2 | Chr8, NC_000008.11 (99013274..99877580) |
864307 nt | 65 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 114 | CACNA2D4/93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | 12p13.33 | Chr12, NC_000012.12 (1791963..1918652, complement) |
126690 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 115 | CLCC1/23155 | chloride channel CLIC like 1 | 1p13.3 | Chr1, NC_000001.11 (108929505..108963484, complement) |
33980 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 116 | KIF3B/9371 | kinesin family member 3B | 20q11.21 | Chr20, NC_000020.11 (32277651..32335011) |
57361 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 117 | NPHP4/261734 | nephrocystin 4 | 1p36.31 | Chr1, NC_000001.11 (5862811..5992425, complement) |
129615 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 118 | KIF11/3832 | kinesin family member 11 | 10q23.33 | Chr10, NC_000010.11 (92593130..92655395) |
62266 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 119 | HKDC1/80201 | hexokinase domain containing 1 | 10q22.1 | Chr10, NC_000010.11 (69220332..69267552) |
47221 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 120 | CC2D2A/57545 | coiled-coil and C2 domain containing 2A | 4p15.32 | Chr4, NC_000004.12 (15469865..15601557) |
131693 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 121 | RAX2/84839 | retina and anterior neural fold homeobox 2 | 19p13.3 | Chr19, NC_000019.10 (3769089..3772228, complement) |
3140 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |