Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	375298
Gene name	CERK like autophagy regulator
Gene symbol	CERKL
Synonyms (NCBI Gene)	RP26
Chromosome	2
Chromosome location	2q31.3
Summary	This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide an

Show/Hide all (35)

SNP ID	Visualize variation	Clinical significance	Consequence
rs78484040	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs121909398	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant, stop gained
rs140898616	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs141389059	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs151110889	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs183252158	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs189638090	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs201186440	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs368855330	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398122962	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398122963	T>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs398122964	A>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs569826109	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs727503857	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs748394238	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs750151209	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753994107	A>C,T	Uncertain-significance, pathogenic, likely-pathogenic	Splice donor variant
rs766131721	CT>-	Likely-pathogenic, uncertain-significance	Intron variant
rs770284500	A>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs772748858	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs776727320	CA>-	Uncertain-significance, pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained
rs776886395	T>C	Pathogenic	Splice acceptor variant
rs786205545	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs863224855	T>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1003615909	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1044562973	C>G,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1187839124	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1187991259	A>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs1276597208	C>T	Pathogenic	Splice donor variant
rs1328971667	G>C,T	Likely-pathogenic	Splice donor variant, intron variant
rs1553512879	G>C	Likely-pathogenic	Intron variant
rs1553513437	CTTA>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553515435	T>C	Likely-pathogenic	Intron variant
rs1559100465	C>T	Likely-pathogenic	Splice acceptor variant
rs1574489337	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT643876	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT662112	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT643877	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT643874	hsa-miR-3671	HITS-CLIP	23824327
MIRT643875	hsa-miR-607	HITS-CLIP	23824327
MIRT643876	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643877	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT643874	hsa-miR-3671	HITS-CLIP	23824327
MIRT643875	hsa-miR-607	HITS-CLIP	23824327
MIRT444824	hsa-miR-3646	PAR-CLIP	22100165
MIRT444823	hsa-miR-129-1-3p	PAR-CLIP	22100165
MIRT444822	hsa-miR-129-2-3p	PAR-CLIP	22100165
MIRT444821	hsa-miR-4780	PAR-CLIP	22100165
MIRT444819	hsa-miR-4635	PAR-CLIP	22100165
MIRT444820	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444818	hsa-miR-4699-5p	PAR-CLIP	22100165
MIRT444817	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT444824	hsa-miR-3646	PAR-CLIP	22100165
MIRT444823	hsa-miR-129-1-3p	PAR-CLIP	22100165
MIRT444822	hsa-miR-129-2-3p	PAR-CLIP	22100165
MIRT444821	hsa-miR-4780	PAR-CLIP	22100165
MIRT444819	hsa-miR-4635	PAR-CLIP	22100165
MIRT444820	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444818	hsa-miR-4699-5p	PAR-CLIP	22100165
MIRT444817	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT643876	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT662112	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT643877	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT643874	hsa-miR-3671	HITS-CLIP	23824327
MIRT643875	hsa-miR-607	HITS-CLIP	23824327
MIRT643876	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643877	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT643874	hsa-miR-3671	HITS-CLIP	23824327
MIRT643875	hsa-miR-607	HITS-CLIP	23824327
MIRT444824	hsa-miR-3646	PAR-CLIP	22100165
MIRT444823	hsa-miR-129-1-3p	PAR-CLIP	22100165
MIRT444822	hsa-miR-129-2-3p	PAR-CLIP	22100165
MIRT444821	hsa-miR-4780	PAR-CLIP	22100165
MIRT444819	hsa-miR-4635	PAR-CLIP	22100165
MIRT444820	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444818	hsa-miR-4699-5p	PAR-CLIP	22100165
MIRT444817	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT444824	hsa-miR-3646	PAR-CLIP	22100165
MIRT444823	hsa-miR-129-1-3p	PAR-CLIP	22100165
MIRT444822	hsa-miR-129-2-3p	PAR-CLIP	22100165
MIRT444821	hsa-miR-4780	PAR-CLIP	22100165
MIRT444819	hsa-miR-4635	PAR-CLIP	22100165
MIRT444820	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444818	hsa-miR-4699-5p	PAR-CLIP	22100165
MIRT444817	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT886789	hsa-miR-323b-5p	CLIP-seq
MIRT886790	hsa-miR-584	CLIP-seq
MIRT886791	hsa-miR-154	CLIP-seq
MIRT2199432	hsa-miR-3163	CLIP-seq
MIRT2199433	hsa-miR-340	CLIP-seq
MIRT2199434	hsa-miR-4738-3p	CLIP-seq
MIRT2199435	hsa-miR-511	CLIP-seq
MIRT2199436	hsa-miR-582-3p	CLIP-seq
MIRT2502073	hsa-miR-1	CLIP-seq
MIRT2502074	hsa-miR-1245	CLIP-seq
MIRT2502075	hsa-miR-1321	CLIP-seq
MIRT2502076	hsa-miR-140-3p	CLIP-seq
MIRT2502077	hsa-miR-1912	CLIP-seq
MIRT2502078	hsa-miR-203	CLIP-seq
MIRT2502079	hsa-miR-205	CLIP-seq
MIRT2502080	hsa-miR-206	CLIP-seq
MIRT2502081	hsa-miR-27a	CLIP-seq
MIRT2502082	hsa-miR-27b	CLIP-seq
MIRT2502083	hsa-miR-3140-5p	CLIP-seq
MIRT2502084	hsa-miR-3144-5p	CLIP-seq
MIRT2502085	hsa-miR-3148	CLIP-seq
MIRT2502086	hsa-miR-3149	CLIP-seq
MIRT2502087	hsa-miR-3153	CLIP-seq
MIRT2502088	hsa-miR-3154	CLIP-seq
MIRT2502089	hsa-miR-3162-5p	CLIP-seq
MIRT2199432	hsa-miR-3163	CLIP-seq
MIRT2502090	hsa-miR-3190	CLIP-seq
MIRT2502091	hsa-miR-3191	CLIP-seq
MIRT2502092	hsa-miR-3192	CLIP-seq
MIRT2502093	hsa-miR-3194-5p	CLIP-seq
MIRT2199433	hsa-miR-340	CLIP-seq
MIRT2502094	hsa-miR-3606	CLIP-seq
MIRT2502095	hsa-miR-361-3p	CLIP-seq
MIRT2502096	hsa-miR-3679-3p	CLIP-seq
MIRT2502097	hsa-miR-376a	CLIP-seq
MIRT2502098	hsa-miR-376b	CLIP-seq
MIRT2502099	hsa-miR-3910	CLIP-seq
MIRT2502100	hsa-miR-3915	CLIP-seq
MIRT2502101	hsa-miR-3924	CLIP-seq
MIRT2502102	hsa-miR-3925-3p	CLIP-seq
MIRT2502103	hsa-miR-3928	CLIP-seq
MIRT2502104	hsa-miR-4251	CLIP-seq
MIRT2502105	hsa-miR-4252	CLIP-seq
MIRT2502106	hsa-miR-4281	CLIP-seq
MIRT2502107	hsa-miR-4297	CLIP-seq
MIRT2502108	hsa-miR-4303	CLIP-seq
MIRT2502109	hsa-miR-4314	CLIP-seq
MIRT2502110	hsa-miR-4329	CLIP-seq
MIRT2502111	hsa-miR-4422	CLIP-seq
MIRT2502112	hsa-miR-4433	CLIP-seq
MIRT2502113	hsa-miR-4459	CLIP-seq
MIRT2502114	hsa-miR-4491	CLIP-seq
MIRT2502115	hsa-miR-450a	CLIP-seq
MIRT2502116	hsa-miR-4522	CLIP-seq
MIRT2502117	hsa-miR-4646-5p	CLIP-seq
MIRT2502118	hsa-miR-4650-5p	CLIP-seq
MIRT2502119	hsa-miR-4652-5p	CLIP-seq
MIRT2502120	hsa-miR-4657	CLIP-seq
MIRT2502121	hsa-miR-4661-3p	CLIP-seq
MIRT2502122	hsa-miR-4668-5p	CLIP-seq
MIRT2502123	hsa-miR-4676-5p	CLIP-seq
MIRT2502124	hsa-miR-4701-5p	CLIP-seq
MIRT2502125	hsa-miR-4710	CLIP-seq
MIRT2502126	hsa-miR-4729	CLIP-seq
MIRT2199434	hsa-miR-4738-3p	CLIP-seq
MIRT2502127	hsa-miR-4739	CLIP-seq
MIRT2502128	hsa-miR-4756-5p	CLIP-seq
MIRT2502129	hsa-miR-4765	CLIP-seq
MIRT2502130	hsa-miR-4768-3p	CLIP-seq
MIRT2502131	hsa-miR-4792	CLIP-seq
MIRT2502132	hsa-miR-491-5p	CLIP-seq
MIRT2199435	hsa-miR-511	CLIP-seq
MIRT2502133	hsa-miR-513a-5p	CLIP-seq
MIRT2502134	hsa-miR-515-5p	CLIP-seq
MIRT2502135	hsa-miR-548ae	CLIP-seq
MIRT2502136	hsa-miR-548aj	CLIP-seq
MIRT2502137	hsa-miR-548am	CLIP-seq
MIRT2502138	hsa-miR-548c-3p	CLIP-seq
MIRT2502139	hsa-miR-548x	CLIP-seq
MIRT2502140	hsa-miR-574-5p	CLIP-seq
MIRT2502141	hsa-miR-575	CLIP-seq
MIRT2199436	hsa-miR-582-3p	CLIP-seq
MIRT2502142	hsa-miR-588	CLIP-seq
MIRT2502143	hsa-miR-613	CLIP-seq
MIRT2502144	hsa-miR-663b	CLIP-seq
MIRT2502145	hsa-miR-759	CLIP-seq
MIRT2502146	hsa-miR-766	CLIP-seq
MIRT2502147	hsa-miR-942	CLIP-seq
MIRT2502073	hsa-miR-1	CLIP-seq
MIRT2502074	hsa-miR-1245	CLIP-seq
MIRT2502075	hsa-miR-1321	CLIP-seq
MIRT2502076	hsa-miR-140-3p	CLIP-seq
MIRT2502077	hsa-miR-1912	CLIP-seq
MIRT2502078	hsa-miR-203	CLIP-seq
MIRT2502079	hsa-miR-205	CLIP-seq
MIRT2502080	hsa-miR-206	CLIP-seq
MIRT2678041	hsa-miR-2392	CLIP-seq
MIRT2502081	hsa-miR-27a	CLIP-seq
MIRT2502082	hsa-miR-27b	CLIP-seq
MIRT2502083	hsa-miR-3140-5p	CLIP-seq
MIRT2502084	hsa-miR-3144-5p	CLIP-seq
MIRT2502085	hsa-miR-3148	CLIP-seq
MIRT2502086	hsa-miR-3149	CLIP-seq
MIRT2502087	hsa-miR-3153	CLIP-seq
MIRT2502088	hsa-miR-3154	CLIP-seq
MIRT2502089	hsa-miR-3162-5p	CLIP-seq
MIRT2199432	hsa-miR-3163	CLIP-seq
MIRT2502090	hsa-miR-3190	CLIP-seq
MIRT2502091	hsa-miR-3191	CLIP-seq
MIRT2502092	hsa-miR-3192	CLIP-seq
MIRT2502093	hsa-miR-3194-5p	CLIP-seq
MIRT2199433	hsa-miR-340	CLIP-seq
MIRT2502094	hsa-miR-3606	CLIP-seq
MIRT2502095	hsa-miR-361-3p	CLIP-seq
MIRT2502096	hsa-miR-3679-3p	CLIP-seq
MIRT2502097	hsa-miR-376a	CLIP-seq
MIRT2502098	hsa-miR-376b	CLIP-seq
MIRT2502099	hsa-miR-3910	CLIP-seq
MIRT2502100	hsa-miR-3915	CLIP-seq
MIRT2502101	hsa-miR-3924	CLIP-seq
MIRT2502102	hsa-miR-3925-3p	CLIP-seq
MIRT2502103	hsa-miR-3928	CLIP-seq
MIRT2502104	hsa-miR-4251	CLIP-seq
MIRT2502105	hsa-miR-4252	CLIP-seq
MIRT2502106	hsa-miR-4281	CLIP-seq
MIRT2502107	hsa-miR-4297	CLIP-seq
MIRT2502108	hsa-miR-4303	CLIP-seq
MIRT2502109	hsa-miR-4314	CLIP-seq
MIRT2502110	hsa-miR-4329	CLIP-seq
MIRT2502111	hsa-miR-4422	CLIP-seq
MIRT2502112	hsa-miR-4433	CLIP-seq
MIRT2502113	hsa-miR-4459	CLIP-seq
MIRT2502114	hsa-miR-4491	CLIP-seq
MIRT2502115	hsa-miR-450a	CLIP-seq
MIRT2502116	hsa-miR-4522	CLIP-seq
MIRT2502117	hsa-miR-4646-5p	CLIP-seq
MIRT2502118	hsa-miR-4650-5p	CLIP-seq
MIRT2502119	hsa-miR-4652-5p	CLIP-seq
MIRT2502120	hsa-miR-4657	CLIP-seq
MIRT2502121	hsa-miR-4661-3p	CLIP-seq
MIRT2502122	hsa-miR-4668-5p	CLIP-seq
MIRT2502123	hsa-miR-4676-5p	CLIP-seq
MIRT2502124	hsa-miR-4701-5p	CLIP-seq
MIRT2502125	hsa-miR-4710	CLIP-seq
MIRT2502126	hsa-miR-4729	CLIP-seq
MIRT2199434	hsa-miR-4738-3p	CLIP-seq
MIRT2502127	hsa-miR-4739	CLIP-seq
MIRT2502128	hsa-miR-4756-5p	CLIP-seq
MIRT2502129	hsa-miR-4765	CLIP-seq
MIRT2502130	hsa-miR-4768-3p	CLIP-seq
MIRT2502131	hsa-miR-4792	CLIP-seq
MIRT2502132	hsa-miR-491-5p	CLIP-seq
MIRT2199435	hsa-miR-511	CLIP-seq
MIRT2502133	hsa-miR-513a-5p	CLIP-seq
MIRT2502134	hsa-miR-515-5p	CLIP-seq
MIRT2502135	hsa-miR-548ae	CLIP-seq
MIRT2502136	hsa-miR-548aj	CLIP-seq
MIRT2502137	hsa-miR-548am	CLIP-seq
MIRT2502138	hsa-miR-548c-3p	CLIP-seq
MIRT2502139	hsa-miR-548x	CLIP-seq
MIRT2502140	hsa-miR-574-5p	CLIP-seq
MIRT2502141	hsa-miR-575	CLIP-seq
MIRT2199436	hsa-miR-582-3p	CLIP-seq
MIRT2502142	hsa-miR-588	CLIP-seq
MIRT2502143	hsa-miR-613	CLIP-seq
MIRT2502144	hsa-miR-663b	CLIP-seq
MIRT2678042	hsa-miR-665	CLIP-seq
MIRT2502145	hsa-miR-759	CLIP-seq
MIRT2502146	hsa-miR-766	CLIP-seq
MIRT2502147	hsa-miR-942	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001727	Function	Lipid kinase activity	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	19158957, 19501188
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	19158957, 19501188
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	19158957
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	19158957
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006665	Process	Sphingolipid metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	19158957
GO:0046625	Function	Sphingolipid binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

MIM	HGNC	e!Ensembl
608381	21699	ENSG00000188452

Q49MI3

Protein name

Ceramide kinase-like protein

Protein function

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00781	DAGK_cat	168 → 335	Diacylglycerol kinase catalytic domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lu

Sequence

MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAERILLRGIFEIGRDSCD
VVLSERALRWRPIQPERPAGDSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGI
TLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILAGFPNRPKSLKILLNPQSHKK
EATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQ
RLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAG
STNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALA
EKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQM
IQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKN
QFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRL
HPRLISLYGGSMEEMIPK

Sequence length

558

Interactions

View interactions

511

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs1278226911	RCV005913610
Adult-onset night blindness	Likely pathogenic	rs1553515435	RCV000626730
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs786205545, rs1553513437, rs1276597208, rs1687790149, rs755238456	RCV001257877 RCV001257869 RCV001257879 RCV001257870 RCV001257878
CERKL-related disorder	Likely pathogenic; Pathogenic	rs121909398	RCV003407259
CERKL-related retinopathy	Likely pathogenic; Pathogenic	rs121909398	RCV005357058
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic	rs1044562973	RCV005912623
Cone dystrophy	Likely pathogenic; Pathogenic	rs121909398, rs753994107	RCV000626731 RCV000626729
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs2105797158, rs121909398, rs78484040, rs1689012192, rs746128841	RCV005419286 RCV000678538 RCV000787563 RCV001199662 RCV003324551
Macular dystrophy	Likely pathogenic	rs1553515435	RCV000626730
Retinal disorder	Likely pathogenic; Pathogenic	rs121909398	RCV006253448
Retinal dystrophy	Pathogenic; Likely pathogenic	rs746595127, rs121909398, rs750151209, rs201186440, rs748394238, rs1688654801, rs1222851981, rs1689007552, rs1553512879, rs1553513437, rs569826109, rs1187839124, rs776727320, rs188492864, rs769632183 View all (11 more)	RCV003888305 RCV000504807 RCV000225454 RCV000225598 RCV004816471 RCV003889371 RCV003890756 RCV004818467 RCV000505152 RCV004817731 RCV000504821 RCV001074698 RCV001073655 RCV001073675 RCV001074956 RCV004813599 RCV001074694 RCV001074788 RCV001074185 RCV001073782 RCV001074862 RCV001073410 RCV001075080 RCV001073678 RCV004813855 RCV004813903
Retinal pigment epithelial atrophy	Likely pathogenic; Pathogenic	rs121909398, rs753994107	RCV000626731 RCV000626729
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1044562973, rs1026405158, rs751149105, rs988540767, rs569826109, rs121909398, rs2468354552, rs1378520293, rs748555018, rs1553513437, rs753994107, rs1187991259, rs1003615909, rs1574489337, rs1276597208 View all (5 more)	RCV002469386 RCV003324564 RCV005912629 RCV003226469 RCV002282574 RCV000504646 RCV002308597 RCV003226694 RCV004018311 RCV000504923 RCV003226314 RCV000787562 RCV001002944 RCV005432512 RCV001002942 RCV001002943 RCV003226432 RCV002239323 RCV001723653 RCV001723654 RCV001723655
Retinitis pigmentosa 26	Likely pathogenic; Pathogenic	rs1305408254, rs1414280804, rs1283658402, rs1328971667, rs1044562973, rs1026405158, rs758116997, rs751149105, rs1457373962, rs1574077466, rs2105569550, rs776566319, rs569826109, rs2105569036, rs1472885040 View all (72 more)	RCV001376357 RCV001376312 RCV001826151 RCV003473902 RCV005023129 RCV003469706 RCV001826182 RCV003473955 RCV001831377 RCV003473997 RCV004570938 RCV003469747 RCV003474018 RCV002488562 RCV001808104 RCV003475274 RCV003471093 RCV003475226 RCV005025562 RCV005025626 RCV003475176 RCV003475216 RCV003475298 RCV004571995 RCV000002460 RCV003471323 RCV003987408 RCV003465792 RCV004572482 RCV004572513 RCV001277031 RCV003475546 RCV001277030 RCV003469250 RCV003468367 RCV003468368 RCV003468369 RCV003468370 RCV003468371 RCV003468372 RCV003475653 RCV003475654 RCV003475655 RCV003475656 RCV003475657 RCV003475658 RCV003475659 RCV003475660 RCV003475661 RCV003475662 RCV003475663 RCV003475664 RCV003475665 RCV003475666 RCV005030204 RCV004573282 RCV004575616 RCV004575617 RCV004575618 RCV004575619 RCV004575620 RCV004575621 RCV000674943 RCV001277034 RCV000625655 RCV001199233 RCV000986950 RCV000671115 RCV001825455 RCV003465711 RCV001825629 RCV001825560 RCV001277038 RCV001835968 RCV000986951 RCV003467563 RCV001832323 RCV001029856 RCV001376310 RCV005029592 RCV001376311 RCV005029595 RCV001374878 RCV005029681 RCV001828539 RCV005029678 RCV001833689 RCV003473701 RCV003473714 RCV003473743 RCV001724268 RCV003469428 RCV004570604 RCV003469461 RCV003989664 RCV000076910 RCV000076911 RCV000076912
See cases	Likely pathogenic; Pathogenic	rs121909398	RCV002251860
Severe photosensitivity	Likely pathogenic	rs1553515435	RCV000626730
Stargardt disease	Likely pathogenic; Pathogenic	rs1209393896	RCV002466648

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs12623737, rs6433923	RCV005923033 RCV005888404
Clear cell carcinoma of kidney	Likely benign	rs201864646	RCV005867056
Colon adenocarcinoma	Benign	rs772304991	RCV005868619
Familial cancer of breast	Benign	rs12623737, rs13003064	RCV005923030 RCV005888395
Familial pancreatic carcinoma	Benign	rs12623737, rs6433923	RCV005923032 RCV005888400
Hepatocellular carcinoma	Benign	rs6433923	RCV005888397
Isolated macular dystrophy	Conflicting classifications of pathogenicity	rs1064797278	RCV001199660
Lymphoma	Benign	rs6433923	RCV005888402
Malignant lymphoma, large B-cell, diffuse	Benign	rs6433923	RCV005888401
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs140898616	RCV005896014
Nonpapillary renal cell carcinoma	Benign	rs12623737, rs6433923	RCV005923031 RCV005888398
Ovarian cancer	Benign	rs6433923	RCV005888399
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs140898616	RCV005896015
Retinitis Pigmentosa, Recessive	Uncertain significance; Likely benign; Benign	rs116322351, rs886055316, rs140597682, rs74486071, rs201864646, rs529740971, rs2368213	RCV000294765 RCV000275382 RCV000390485 RCV000360469 RCV000271483 RCV000322952 RCV000263150
Uterine carcinosarcoma	Benign	rs6433923	RCV005888403

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Squamous Cell	Associate	33393080
Cataract	Associate	40141357
Cone Rod Dystrophies	Associate	20554613, 24498393, 29555955, 30926958
Eye Diseases Hereditary	Associate	33322828
Hypertensive Retinopathy	Associate	30696906
Keratosis Actinic	Associate	33393080
Macular Degeneration	Associate	30696906, 37331655
Muscular Disorders Atrophic	Associate	37322672
Refsum Disease Infantile	Associate	27898983, 40141357
Retinal Degeneration	Associate	18978954, 26352687, 28130426, 30696906
Retinal Diseases	Associate	18978954, 24498393, 27898983, 30696906
Retinal Dystrophies	Associate	20454696, 24625443, 27874104, 29068140, 32641690, 33322828, 37331655
Retinitis Pigmentosa	Associate	21151602, 24498393, 31082679, 31960602, 33322828, 37322672
RHYNS syndrome	Associate	33393080
Vision Disorders	Associate	30696906, 33322828

CERKL (CERK like autophagy regulator)