ELOVL4 (ELOVL fatty acid elongase 4)

Gene

• Entrez ID: 6785
• Gene name: ELOVL fatty acid elongase 4
• Gene symbol: ELOVL4
• Synonyms (NCBI Gene): ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
• Chromosome: 6
• Chromosome location: 6q14.1
• Summary: This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893946	G>C	Pathogenic	Coding sequence variant, stop gained
rs199860277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906916	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs587776613	AGTTA>GTT	Pathogenic	Frameshift variant, coding sequence variant
rs587777598	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs746047636	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1057524307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131690770	TTAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692036	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1554162178	C>T	Likely-pathogenic	Splice donor variant
rs1554162301	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554162524	T>C	Likely-pathogenic	Splice acceptor variant
rs1561982219	C>T	Pathogenic	Splice acceptor variant
rs1582043186	->A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030702	hsa-miR-21-5p	Microarray	18591254
MIRT031100	hsa-miR-19b-3p	Sequencing	20371350
MIRT048019	hsa-miR-30c-5p	CLASH	23622248
MIRT046167	hsa-miR-30b-5p	CLASH	23622248
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT961244	hsa-miR-128	CLIP-seq
MIRT961245	hsa-miR-191	CLIP-seq
MIRT961246	hsa-miR-199a-3p	CLIP-seq
MIRT961247	hsa-miR-199b-3p	CLIP-seq
MIRT961248	hsa-miR-2116	CLIP-seq
MIRT961249	hsa-miR-218	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT961252	hsa-miR-3129-5p	CLIP-seq
MIRT961253	hsa-miR-323-3p	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT961255	hsa-miR-3935	CLIP-seq
MIRT961256	hsa-miR-4282	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT961258	hsa-miR-4432	CLIP-seq
MIRT961259	hsa-miR-4457	CLIP-seq
MIRT961260	hsa-miR-4662a-3p	CLIP-seq
MIRT961261	hsa-miR-4677-5p	CLIP-seq
MIRT961262	hsa-miR-4704-3p	CLIP-seq
MIRT961263	hsa-miR-4775	CLIP-seq
MIRT961264	hsa-miR-513b	CLIP-seq
MIRT961265	hsa-miR-577	CLIP-seq
MIRT961266	hsa-miR-590-3p	CLIP-seq
MIRT961267	hsa-miR-891b	CLIP-seq
MIRT961268	hsa-miR-936	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT2219734	hsa-miR-1208	CLIP-seq
MIRT2219735	hsa-miR-1238	CLIP-seq
MIRT2219736	hsa-miR-1301	CLIP-seq
MIRT2219737	hsa-miR-194	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2219738	hsa-miR-4520a-3p	CLIP-seq
MIRT2219739	hsa-miR-4520b-3p	CLIP-seq
MIRT2219740	hsa-miR-4529-3p	CLIP-seq
MIRT2219741	hsa-miR-4643	CLIP-seq
MIRT2219742	hsa-miR-466	CLIP-seq
MIRT2219743	hsa-miR-4660	CLIP-seq
MIRT2219744	hsa-miR-4713-5p	CLIP-seq
MIRT2219745	hsa-miR-4789-3p	CLIP-seq
MIRT2219746	hsa-miR-5047	CLIP-seq
MIRT2219747	hsa-miR-505	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2219749	hsa-miR-873	CLIP-seq
MIRT2448798	hsa-miR-1243	CLIP-seq
MIRT2448799	hsa-miR-3175	CLIP-seq
MIRT2448800	hsa-miR-4716-3p	CLIP-seq
MIRT2448801	hsa-miR-4723-5p	CLIP-seq
MIRT2448802	hsa-miR-4764-5p	CLIP-seq
MIRT2523263	hsa-miR-105	CLIP-seq
MIRT2523264	hsa-miR-1251	CLIP-seq
MIRT961244	hsa-miR-128	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523274	hsa-miR-325	CLIP-seq
MIRT2523275	hsa-miR-3613-3p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523278	hsa-miR-3671	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2523281	hsa-miR-4272	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2523282	hsa-miR-4433	CLIP-seq
MIRT2523283	hsa-miR-4684-5p	CLIP-seq
MIRT2523284	hsa-miR-4719	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2523286	hsa-miR-496	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523287	hsa-miR-607	CLIP-seq
MIRT2523288	hsa-miR-628-3p	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2679954	hsa-miR-4666-5p	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2679955	hsa-miR-656	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20937905, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	20937905
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16036915
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	NAS	11138005
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	NAS	11138005
GO:0009584	Process	Detection of visible light	IEA
GO:0009922	Function	Fatty acid elongase activity	IBA
GO:0009922	Function	Fatty acid elongase activity	IEA
GO:0009922	Function	Fatty acid elongase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IDA	20937905
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0030497	Process	Fatty acid elongation	IEA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IBA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IBA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IEA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	ISS
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	ISS

Other IDs

• MIM: 605512
• HGNC: 14415
• e!Ensembl: ENSG00000118402

Protein

• UniProt ID: Q9GZR5
• Protein name: Very long chain fatty acid elongase 4 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL4) (ELOVL fatty acid elongase 4) (ELOVL FA elongase 4) (Elongation of very long chain fatty acids protein 4) (Very long chain 3-ketoacyl-CoA synthase 4) (Very long chain 3
• Protein function: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01151	ELO	41 → 278	GNS1/SUR4 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. {ECO:000026
• Sequence:

  MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV
  WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH
  EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ
  AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
  CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
  ENGKKQKNGKAKGD

• Sequence length: 314

Pathways

KEGG:

Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Pathogenic; Likely pathogenic	rs587777598, rs387906916, rs1131690772, rs1554162524, rs1554162301, rs1561982219, rs746047636	RCV002483274 RCV000023451 RCV000023452 RCV000497810 RCV005034041 RCV000679978 RCV000679977	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ELOVL4-related ataxia	Likely pathogenic	rs2532974649	RCV003329562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ELOVL4-related disorder	Pathogenic; Likely pathogenic	rs587777598, rs1554162524	RCV003479020 RCV002307524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic	rs1131690770	RCV001074586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs2127698054	RCV001647218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 34	Pathogenic; Likely pathogenic	rs587777598, rs1131692036, rs1554162301	RCV000132563 RCV000494690 RCV000504460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease 3	Pathogenic; Likely pathogenic	rs587777598, rs1131690770, rs587776613, rs104893946, rs1554162301	RCV002483274 RCV000005226 RCV000005227 RCV000005228 RCV005034041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ICHTHYOSIS, INTELLECTUAL DISABILITY, SPASTIC QUADRIPLEGIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELOVL4-RELATED MACULOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA WITH ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY CORNEAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROSACEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 34	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stargardt disease	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Stargardt Disease, Dominant	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	11138005, 11581213, 11726641, 11803489, 12592226, 15028284, 15557430, 15749821, 15930014, 16036915, 16364203, 16476896, 16885922, 17000705, 17210851, 17254625, 19536303, 22100072, 23509295, 24566826, 24644051, 24664730, 26110599, 29168048, 30982505, 31616255		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	15028284		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	37592902	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	26010696		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	11138005		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37568198, 37592902	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	34073554	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24393480, 30446877	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10420191		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	10420191		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 7	Cone-rod dystrophy	BEFREE	10420191, 10634627		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	22100072, 30982505		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Ichthyosis, spastic quadriplegia, and mental retardation	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Demyelinating Diseases	Demyelinating diseases	Pubtator	37592902	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37592902	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29362226		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29362226		★☆☆☆☆ 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	20096366, 26110599, 26427403		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	24677106		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	37568198	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37592902	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	24566826, 26010696		★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	36464075, 37568198	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia with ataxia	Spinocerebellar ataxia	BEFREE	24566826, 26010696, 30982505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia with ataxia	Spinocerebellar ataxia	ORPHANET_DG	24566826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia with ataxia	Spinocerebellar ataxia	GENOMICS_ENGLAND_DG	24566826, 26010696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia with ataxia	Spinocerebellar ataxia	UNIPROT_DG	24566826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia with ataxia	Spinocerebellar ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	17210851		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33652762	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34725421	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	33652762	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	11803489, 17210851		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33652762	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	33652762	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	22100072, 30982505		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	22100072, 24571530, 33652762, 37592902	Associate	★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	Ichthyosis, spastic quadriplegia, and mental retardation	GENOMICS_ENGLAND_DG	22100072		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	Ichthyosis, spastic quadriplegia, and mental retardation	ORPHANET_DG	22100072		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	Ichthyosis, spastic quadriplegia, and mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22100072, 24571530, 33652762, 37592902	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile macular degeneration	Macular degeneration	BEFREE	17254625		★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	37592902	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	12592226		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24664752		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24664752		★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	11803489, 12592226, 15028284, 15557430, 15749821, 16036915, 22100072, 24566826, 24644051		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	15930014, 16885922, 37568198	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	11138005, 11581213, 11726641, 12592226, 15557430, 16036915, 16364203, 16476896, 17254625, 19536303, 23509295, 24664730, 26110599, 29168048, 30982505, 31616255		★☆☆☆☆ Found in Text Mining only
Macular Dystrophy Retinal 2	Macular dystrophy	Pubtator	33988224	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22293571		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21057539		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26427403		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34725421	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31616255		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18535405	Associate	★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22100072, 37568198	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	12592226		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12592226		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 25	Retinitis Pigmentosa	BEFREE	10634627		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	10420191		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22100072, 37568198	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	37568198	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 34	Spinocerebellar Ataxia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	33652762, 34689836, 36464075, 37568198, 37592902	Associate	★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	10486215, 27813578, 28050124, 33988224, 34073554	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Stargardt disease	Stargardt Disease	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	10486215, 15749821, 22948568, 29417145		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	ORPHANET_DG	20633576		★☆☆☆☆ Found in Text Mining only
Stargardt disease 3	Stargardt Disease	BEFREE	16364203, 16476896, 17254625, 17356513, 19536303, 19666930, 20096366, 21429867, 23479632, 29377748, 30982505, 31616255, 9719369		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 3	Stargardt disease	Pubtator	16364203, 29377748, 33652762, 36464075, 37568198, 37592902	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 3	Stargardt Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 3	Stargardt Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 3	Stargardt Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	39368544	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	34689836	Associate	★☆☆☆☆ Found in Text Mining only