CACNA1F (calcium voltage-gated channel subunit alpha1 F)

Gene

• Entrez ID: 778
• Gene name: Calcium voltage-gated channel subunit alpha1 F
• Gene symbol: CACNA1F
• Synonyms (NCBI Gene): AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80359870	->G	Pathogenic	Coding sequence variant, frameshift variant
rs122456133	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs122456134	G>A	Pathogenic	Coding sequence variant, stop gained
rs122456135	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs122456136	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs138447882	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs141010716	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs144131971	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149685267	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781923856	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782362725	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs782575860	C>T	Pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs782581701	G>A	Pathogenic	Stop gained, coding sequence variant
rs782740998	G>A	Pathogenic	Stop gained, coding sequence variant
rs797044676	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs863223294	GACGC>CCA	Pathogenic	Splice acceptor variant, coding sequence variant
rs863225090	C>T	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs879255389	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs886039559	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039560	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886041479	C>-	Pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant
rs886044841	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1057516199	T>C	Likely-pathogenic	Splice acceptor variant
rs1057518829	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1057523895	T>G	Likely-pathogenic	Splice acceptor variant
rs1064794711	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797371	C>T	Likely-pathogenic	Splice donor variant
rs1085307529	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1358925739	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1365490247	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs1557105474	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557106008	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557106557	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1557107192	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557107417	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557108147	C>T	Likely-pathogenic	Splice donor variant
rs1557109796	TCGGC>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557109912	CTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCC>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1557110046	->A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557110192	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557110499	AAG>-	Pathogenic, likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1557110988	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1602627593	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602628429	C>T	Likely-pathogenic	Intron variant
rs1602630650	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602639528	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602639607	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602641426	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1602644716	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602653110	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602653742	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1602658505	->GCCACTG	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	15897456, 27226626
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	12111638
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27226626
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	15897456
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	9662399, 9662400, 16505158
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	27226626
GO:0016020	Component	Membrane	IDA	15897456
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	IDA	27226626

Other IDs

• MIM: 300110
• HGNC: 1393
• e!Ensembl: ENSG00000102001

Protein

• UniProt ID: O60840
• Protein name: Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)
• Protein function: [Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, g
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	91 → 383	Ion transport protein	Family
  PF00520	Ion_trans	528 → 768	Ion transport protein	Family
  PF00520	Ion_trans	870 → 1148	Ion transport protein	Family
  PF00520	Ion_trans	1189 → 1452	Ion transport protein	Family
  PF16905	GPHH	1461 → 1514	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1524 → 1598	Voltage gated calcium channel IQ domain	Domain
  PF16885	CAC1F_C	1619 → 1976	Voltage-gated calcium channel subunit alpha, C-term	Family

• Tissue specificity: TISSUE SPECIFICITY: Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626). {ECO:0000269|PubMed:10873387, ECO:0000269|PubMed:27226626}.
• Sequence:

  MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
  AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
  NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
  EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
  ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
  GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
  FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
  ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
  TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
  LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
  VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
  LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
  IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
  DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
  KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
  NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
  AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
  LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
  TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
  RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
  LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
  IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
  IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
  TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
  MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
  HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
  MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
  LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
  LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
  KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
  PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
  GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
  AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL

• Sequence length: 1977

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
Abnormality of the eye	Likely pathogenic	rs782362725	RCV000504925	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aland island eye disease	Pathogenic; Likely pathogenic	rs2065655753, rs2147897090, rs797044676, rs886039559, rs2147900556, rs886044841, rs2520852085, rs2520789817, rs1064797371	RCV001333361 RCV001809151 RCV000787554 RCV000787553 RCV000012387 RCV002502130 RCV003333883 RCV003448822 RCV001253530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amblyopia	Pathogenic	rs1057518829	RCV000415143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1F-related disorder	Likely pathogenic; Pathogenic	rs2147896131, rs122456134, rs886044841, rs781960727, rs80359870	RCV004731166 RCV004730844 RCV003417898 RCV003404675 RCV003398551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs1064797371	RCV005899708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1064797371	RCV005899707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs797044676, rs2520906768, rs1557110499, rs782581701, rs1602653110	RCV005625373 RCV003324686 RCV002267736 RCV003324533 RCV002267752	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital stationary night blindness	Pathogenic; Likely pathogenic	rs122456134, rs122456135, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs1358925739, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382	RCV000504913 RCV001002915 RCV000504818 RCV000504804 RCV000505176 RCV000504722 RCV000505088 RCV000504896 RCV000504710 RCV000505071 RCV000505132 RCV000505008 RCV001199446 RCV001002910 RCV001002912 RCV001002913 RCV001002914 RCV001002916 RCV001002917 RCV001002921 RCV001002911 RCV001199448	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital stationary night blindness 2A	Likely pathogenic; Pathogenic	rs1249437161, rs2520867977, rs2520742477, rs2520968443, rs2065832850, rs2519139558, rs2519143271, rs2519130860, rs886039559, rs886039560, rs122456133, rs122456134, rs122456135, rs2147895629, rs886044841, rs80359870, rs1057518829, rs782581701, rs1602630650, rs2065717735, rs782034481, rs2065717075, rs2065788651, rs2065808928, rs2065854138	RCV002272468 RCV002289397 RCV003164459 RCV003164460 RCV003164461 RCV003164462 RCV003164464 RCV003155597 RCV001197452 RCV003989512 RCV000012380 RCV000012381 RCV000012383 RCV000012384 RCV002502130 RCV000020629 RCV001199353 RCV000754588 RCV001270458 RCV001270456 RCV001270461 RCV001270460 RCV001270459 RCV001270457 RCV001270462	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital stationary night blindness, type 2A, severe	Pathogenic	rs122456136	RCV000012385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Pathogenic	rs1057518829	RCV000415143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147917894, rs1602653110	RCV005912616 RCV005912358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Pathogenic	rs782581701, rs782740998	RCV004817949 RCV004818137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs1557106557	RCV000787555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs797044676	RCV006261954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2065843670, rs797044676, rs122456134, rs80359870, rs1557106557, rs1365490247, rs2065670611, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs782557600, rs2065753439	RCV001591908 RCV001075342 RCV001073304 RCV004814910 RCV000505118 RCV001074649 RCV001075643 RCV001074388 RCV001073941 RCV001075550 RCV001074671 RCV001074580 RCV001075764 RCV001073815 RCV001075266	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs1602653742	RCV000787556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs782034481	RCV005910801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked cone-rod dystrophy 3	Likely pathogenic; Pathogenic	rs1249437161, rs2147916480, rs2147910175, rs2147916504, rs863225090, rs2520965630, rs2519143252, rs886039559, rs886039560, rs863223294, rs886044841, rs2520865607, rs1057516199, rs1358925739, rs782740998	RCV005253837 RCV001542624 RCV002272983 RCV002273195 RCV000201353 RCV004698875 RCV003153232 RCV001542625 RCV005869192 RCV000012386 RCV002502130 RCV003991218 RCV000408778 RCV005601094 RCV002286797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNA1F-related retinopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY, X-LINKED, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR ALBINISM, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Achromatopsia 2	Achromatopsia	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Achromatopsia 3	Achromatopsia	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Aland Island Eye Disease	Aland island eye disease	Pubtator	22194652, 28002560, 33513752	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	16505158		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	16505158	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18726700, 24519516		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	40269797	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31724326		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31724326	Associate	★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	16505158, 19151588, 24124559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	16505158, 26992781		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19151588		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 3 (disorder)	Cone-rod dystrophy	BEFREE	24124559, 28002560		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY, X-LINKED, 3	Cone-rod dystrophy	BEFREE	19151588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY, X-LINKED, 3	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	26350204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY, X-LINKED, 3	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY, X-LINKED, 3	Cone-rod dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorder of eye	Disorder Of Eye	LHGDN	17525176		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	22194652, 24163243		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	16650384		★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24519516		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	17949918, 28751151		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	28751151	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	18348259		★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	18348259		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	29062221, 36165086	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	26147197		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26147197		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	24519516		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	36883376	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36232761	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	17949918, 28751151		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	Pubtator	22194652, 28751151, 35567543, 37191617, 38243264	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
nervous system disorder	Nervous System Disorder	BEFREE	11890456		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	14609846, 15761389, 15897456, 19578023, 21920492, 22194652, 22277662, 24796500, 26234941, 28002560, 29062221, 30186847, 30355583, 32013026, 33037074, 33513752, 34064005, 36191840, 36499293, 36943941, 38522615, 7966198, 8933343, 9529339	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	16505158	Stimulate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	CLINVAR_DG	11281458, 9662399, 9662400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	BEFREE	11381068, 15583843, 15634789, 16476079, 16960802, 20238058, 22735794, 23714322, 24796500, 25748727, 26368928, 29179637, 7907666, 9760193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary, type 1	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	10439964, 10873387, 10982042, 11281458, 12187427, 12552565, 12719097, 14609846, 14973233, 15761389, 15807819, 15897456, 16505158, 17525176, 18348259, 20238058, 22194652, 26234941, 30982101, 9662400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	UNIPROT_DG	11281458, 12111638, 12187427, 15897456, 22194652, 9662399, 9662400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	GENOMICS_ENGLAND_DG	26350204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CLINVAR_DG	30576320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	LHGDN	14973233, 15634789, 15761389		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	20238058, 23714322		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	16505158, 17949918		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28002560, 40269797	Associate	★☆☆☆☆ Found in Text Mining only
Ocular albinism, type II	Ocular albinism	BEFREE	12111638, 17525176, 22194652, 24163243, 2667510, 7907666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type II	Ocular albinism	UNIPROT_DG	17525176, 22194652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type II	Ocular albinism	ORPHANET_DG	17525176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type II	Ocular albinism	GENOMICS_ENGLAND_DG	26350204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type II	Ocular albinism	CLINVAR_DG	30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type II	Ocular albinism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	BEFREE	18726700, 24519516		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	12860808		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal Diseases	BEFREE	10439964, 12719097, 30260717, 30825406		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	15897456, 37191617, 38160664, 40269797	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	25307992		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21920492, 25999675, 26075273, 26436388	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26075273		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa 2	Retinitis pigmentosa	Pubtator	26075273	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19151588		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16650384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16650384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	11890456		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	17949918		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	38243264	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	20213496		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	15897456, 8933343	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	18726700, 24519516		★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	BEFREE	12111638, 9529339, 9662400		★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
	Ocular albinism	Orphanet			★☆☆☆☆ Found in Text Mining only