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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	375298
Gene name Gene Name - the full gene name approved by the HGNC.	CERK like autophagy regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CERKL
Synonyms (NCBI Gene) Gene synonyms aliases	RP26
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cone-rod dystrophy	Cone-rod dystrophy	rs78484040, rs121909398, rs1689012192, rs746128841	N/A
retinal dystrophy	Retinal dystrophy	rs1187839124, rs1689010156, rs769632183, rs1553513437, rs776727320, rs1689011389, rs750151209, rs569826109, rs121909398, rs200711686, rs201186440, rs746128841, rs1685573282, rs1687854945, rs188492864 View all (5 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa 26, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs1003615909, rs398122964, rs1685567937, rs1688308445, rs1553513437, rs1187839124, rs1238123416, rs1574489337, rs1476585944, rs786205545, rs1559100465, rs121909398, rs1689010156, rs1276597208, rs769632183 View all (19 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Macular dystrophy	Isolated macular dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)