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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs1278226911	RCV005913610	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult-onset night blindness	Likely pathogenic	rs1553515435	RCV000626730	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs786205545, rs1553513437, rs1276597208, rs1687790149, rs755238456	RCV001257877 RCV001257869 RCV001257879 RCV001257870 RCV001257878	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CERKL-related disorder	Likely pathogenic; Pathogenic	rs121909398	RCV003407259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CERKL-related retinopathy	Likely pathogenic; Pathogenic	rs121909398	RCV005357058	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic	rs1044562973	RCV005912623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs121909398, rs753994107	RCV000626731 RCV000626729	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs2105797158, rs121909398, rs78484040, rs1689012192, rs746128841	RCV005419286 RCV000678538 RCV000787563 RCV001199662 RCV003324551	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Likely pathogenic	rs1553515435	RCV000626730	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs121909398	RCV006253448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal pigment epithelial atrophy	Likely pathogenic; Pathogenic	rs121909398, rs753994107	RCV000626731 RCV000626729	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (93 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe photosensitivity	Likely pathogenic	rs1553515435	RCV000626730	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Likely pathogenic; Pathogenic	rs1209393896	RCV002466648	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated macular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult-onset night blindness	Night Blindness	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrophoderma maculatum	Anetoderma	BEFREE	24547929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33393080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	40141357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	19578027, 24498393, 30926958		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG	30718709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19578027, 24498393, 30926958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	26296657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	19578027, 30696906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	33322828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30696906, 37331655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maturity onset diabetes mellitus in young	Mason type diabetes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi Disease	BEFREE	31257036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	18978954, 26352687, 28130426, 30696906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	LHGDN	18978954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	18978954, 24498393, 27898983, 30696906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19578027, 24498393, 24547929, 30696906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	14681825, 18978954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	23671706, 29068140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	14681825		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	14681825, 21151602, 22164218, 24043777, 25999674, 30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15708351, 19158957, 21151602, 21508105, 24498393, 26296657, 30324448, 31082679		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21151602, 24498393, 31082679, 31960602, 33322828, 37322672	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 26	Retinitis Pigmentosa	UNIPROT_DG	14681825, 18978954		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 26	Retinitis Pigmentosa	CLINVAR_DG	27874104, 28041643		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 26	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 26	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	33393080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19578027, 24498393, 24547929, 28398482, 30926958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	30696906, 33322828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CERKL (CERK like autophagy regulator)