TRPM1 (transient receptor potential cation channel subfamily M member 1)

Gene

• Entrez ID: 4308
• Gene name: Transient receptor potential cation channel subfamily M member 1
• Gene symbol: TRPM1
• Synonyms (NCBI Gene): CSNB1C, LTRPC1, MLSN1
• Chromosome: 15
• Chromosome location: 15q13.3
• Summary: This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin syn

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138886378	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs150441866	A>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs191205969	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs267607139	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607141	G>A	Pathogenic	Coding sequence variant, stop gained
rs372529012	A>C,G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs387906862	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs763546583	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs768701595	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs770561064	C>T	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs772011426	TTAC>-	Pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1555424166	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555424849	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1596017653	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1596029830	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029939	hsa-miR-26b-5p	Microarray	19088304
MIRT515354	hsa-miR-4438	PAR-CLIP	23446348
MIRT515355	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT515353	hsa-miR-4252	PAR-CLIP	23446348
MIRT515352	hsa-miR-5095	PAR-CLIP	23446348
MIRT515351	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515350	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515349	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515354	hsa-miR-4438	PAR-CLIP	23446348
MIRT515355	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT515353	hsa-miR-4252	PAR-CLIP	23446348
MIRT515352	hsa-miR-5095	PAR-CLIP	23446348
MIRT515351	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515350	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515349	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT1457294	hsa-miR-1273f	CLIP-seq
MIRT1457295	hsa-miR-34c-3p	CLIP-seq
MIRT1457296	hsa-miR-4423-5p	CLIP-seq
MIRT1457297	hsa-miR-4781-3p	CLIP-seq
MIRT2137122	hsa-miR-4427	CLIP-seq
MIRT2137123	hsa-miR-4680-3p	CLIP-seq
MIRT2357918	hsa-miR-106a	CLIP-seq
MIRT2357919	hsa-miR-106b	CLIP-seq
MIRT2357920	hsa-miR-150	CLIP-seq
MIRT2357921	hsa-miR-17	CLIP-seq
MIRT2357922	hsa-miR-20a	CLIP-seq
MIRT2357923	hsa-miR-20b	CLIP-seq
MIRT2357924	hsa-miR-302a	CLIP-seq
MIRT2357925	hsa-miR-302b	CLIP-seq
MIRT2357926	hsa-miR-302c	CLIP-seq
MIRT2357927	hsa-miR-302d	CLIP-seq
MIRT2357928	hsa-miR-302e	CLIP-seq
MIRT2357929	hsa-miR-3159	CLIP-seq
MIRT2357930	hsa-miR-372	CLIP-seq
MIRT2357931	hsa-miR-373	CLIP-seq
MIRT2357932	hsa-miR-4282	CLIP-seq
MIRT2137122	hsa-miR-4427	CLIP-seq
MIRT2137123	hsa-miR-4680-3p	CLIP-seq
MIRT2357933	hsa-miR-4757-5p	CLIP-seq
MIRT2357934	hsa-miR-519d	CLIP-seq
MIRT2357935	hsa-miR-520a-3p	CLIP-seq
MIRT2357936	hsa-miR-520b	CLIP-seq
MIRT2357937	hsa-miR-520c-3p	CLIP-seq
MIRT2357938	hsa-miR-520d-3p	CLIP-seq
MIRT2357939	hsa-miR-520e	CLIP-seq
MIRT2357940	hsa-miR-520g	CLIP-seq
MIRT2357941	hsa-miR-520h	CLIP-seq
MIRT2357942	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	14744763;15577322
MITF	Unknown	20482673

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IDA	23452348
GO:0005262	Function	Calcium channel activity	TAS	9806836
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	30027108
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9806836
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IMP	23452348
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	19878917
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	IDA	21278253
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0051262	Process	Protein tetramerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071482	Process	Cellular response to light stimulus	IMP	19896109
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	21278253
GO:0098703	Process	Calcium ion import across plasma membrane	IDA	23452348

Other IDs

• MIM: 603576
• HGNC: 7146
• e!Ensembl: ENSG00000134160

Protein

• UniProt ID: Q7Z4N2
• Protein name: Transient receptor potential cation channel subfamily M member 1 (Long transient receptor potential channel 1) (LTrpC1) (Melastatin-1)
• Protein function: Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization (PubMed:11535825, PubMed:19436059, PubMed:21278253
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18139	LSDAT_euk	70 → 335	SLOG in TRPM	Family
  PF00520	Ion_trans	828 → 1087	Ion transport protein	Family
  PF16519	TRPM_tetra	1179 → 1234	Tetramerisation domain of TRPM	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina where it localizes to the outer plexiform layer. Specifically, it is expressed in retinal bipolar cells (BPCs) of the ON subtype (PubMed:30027108). Highly expressed in benign melanocytic nevi and diffusely expre
• Sequence:

  MKDSNRCCCGQFTNQHIPPLPSATPSKNEEESKQVETQPEKWSVAKHTQSYPTDSYGVLE
  FQGGGYSNKAMYIRVSYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVF
  GKGLIKAAMTTGAWIFTGGVSTGVISHVGDALKDHSSKSRGRVCAIGIAPWGIVENKEDL
  VGKDVTRVYQTMSNPLSKLSVLNNSHTHFILADNGTLGKYGAEVKLRRLLEKHISLQKIN
  TRLGQGVPLVGLVVEGGPNVVSIVLEYLQEEPPIPVVICDGSGRASDILSFAHKYCEEGG
  IINESLREQLLVTIQKTFNYNKAQSHQLFAIIMECMKKKELVTVFRMGSEGQQDIEMAIL
  TALLKGTNVSAPDQLSLALAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKPP
  MATTKGGRGKGKGKKKGKVKEEVEEETDPRKIELLNWVNALEQAMLDALVLDRVDFVKLL
  IENGVNMQHFLTIPRLEELYNTRLGPPNTLHLLVRDVKKSNLPPDYHISLIDIGLVLEYL
  MGGAYRCNYTRKNFRTLYNNLFGPKRPKALKLLGMEDDEPPAKGKKKKKKKKEEEIDIDV
  DDPAVSRFQYPFHELMVWAVLMKRQKMAVFLWQRGEESMAKALVACKLYKAMAHESSESD
  LVDDISQDLDNNSKDFGQLALELLDQSYKHDEQIAMKLLTYELKNWSNSTCLKLAVAAKH
  RDFIAHTCSQMLLTDMWMGRLRMRKNPGLKVIMGILLPPTILFLEFRTYDDFSYQTSKEN
  EDGKEKEEENTDANADAGSRKGDEENEHKKQRSIPIGTKICEFYNAPIVKFWFYTISYLG
  YLLLFNYVILVRMDGWPSLQEWIVISYIVSLALEKIREILMSEPGKLSQKIKVWLQEYWN
  ITDLVAISTFMIGAILRLQNQPYMGYGRVIYCVDIIFWYIRVLDIFGVNKYLGPYVMMIG
  KMMIDMLYFVVIMLVVLMSFGVARQAILHPEEKPSWKLARNIFYMPYWMIYGEVFADQID
  LYAMEINPPCGENLYDEEGKRLPPCIPGAWLTPALMACYLLVANILLVNLLIAVFNNTFF
  EVKSISNQVWKFQRYQLIMTFHDRPVLPPPMIILSHIYIIIMRLSGRCRKKREGDQEERD
  RGLKLFLSDEELKRLHEFEEQCVQEHFREKEDEQQSSSDERIRVTSERVENMSMRLEEIN
  ERETFMKTSLQTVDLRLAQLEELSNRMVNALENLAGIDRSDLIQARSRASSECEATYLLR
  QSSINSADGYSLYRYHFNGEELLFEDTSLSTSPGTGVRKKTCSFRIKEEKDVKTHLVPEC
  QNSLHLSLGTSTSATPDGSHLAVDDLKNAEESKLGPDIGISKEDDERQTDSKKEETISPS
  LNKTDVIHGQDKSDVQNTQLTVETTNIEGTISYPLEETKITRYFPDETINACKTMKSRSF
  VYSRGRKLVGGVNQDVEYSSITDQQLTTEWQCQVQKITRSHSTDIPYIVSEAAVQAEHKE
  QFADMQDEHHVAEAIPRIPRLSLTITDRNGMENLLSVKPDQTLGFPSLRSKSLHGHPRNV
  KSIQGKLDRSGHASSVSSLVIVSGMTAEEKKVKKEKASTETEC

• Sequence length: 1603

Pathways

Reactome:

TRP channels

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 stationary night blindness	Pathogenic; Likely pathogenic	rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1485132228, rs765645888, rs1596029830	RCV000505084 RCV000504895 RCV000504632 RCV000505098 RCV000504906 RCV000504718 RCV001003230 RCV001003231 RCV001003233	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital stationary night blindness 1C	Likely pathogenic; Pathogenic	rs180869804, rs2141098146, rs1195734631, rs754705612, rs773030662, rs1226505973, rs749930261, rs2504151460, rs759370186, rs778390089, rs766862238, rs267607140, rs267607141, rs747553429, rs869312176, rs387906862, rs786205113, rs772011426, rs372529012, rs1485132228, rs779821510, rs763546583, rs765645888, rs1596017653, rs2031777349, rs2033825467	RCV002488206 RCV001542686 RCV001785091 RCV001783913 RCV001783914 RCV002460350 RCV006257349 RCV002291126 RCV003992700 RCV001542687 RCV000006601 RCV000006603 RCV000006604 RCV005631085 RCV000210285 RCV000023310 RCV000023311 RCV000023312 RCV000505592 RCV000785957 RCV000778427 RCV003133622 RCV005359738 RCV001029885 RCV001198800 RCV001262194	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2033825467	RCV001255343	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs369742878	RCV006276073	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs749930261, rs2034398158, rs2034427266, rs760391688, rs766396216	RCV004816930 RCV001074672 RCV001075105 RCV001074146 RCV004813913	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRPM1-related disorder	Likely pathogenic; Pathogenic	rs369742878, rs779821510, rs765645888	RCV003422046 RCV003411717 RCV003413796	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Stationary Night Blindness, Recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary macular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	21411639, 28549093, 31117125		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28813576		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	28813576		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Stimulate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23375656	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10607831		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19878917	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37511188	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37107586	Associate	★☆☆☆☆ Found in Text Mining only
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)
Cutaneous Melanoma	Melanoma	BEFREE	15577322, 19396153, 22897572, 31117125		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29246976		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21439949		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30130595		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34238116	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20425840		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28813576, 31995762	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31117125		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	20482673, 27987328		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14744763, 15577322, 17616360, 19396153, 19436059, 20482673, 20846719, 21072171, 22897572, 24039954, 27987328, 31117125, 31646527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19396153, 20482673	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	22897572, 35181301	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19396153, 22897572	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29246976		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	9806836		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	31908403, 34064005	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20482673, 22897572, 31646527		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	24668847		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	19878917, 19896109, 19896113, 23452348, 24715752, 29522070, 31427709, 31908403, 34064005, 35633130, 35872165, 36499293	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	19896109, 19896113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	BEFREE	19896113, 20300565, 20846719, 21290293, 22325361, 24668847, 24715752, 29522070, 29854741, 31427709		★★☆☆☆ 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	Night blindness	CLINVAR_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 1B	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	Night blindness	UNIPROT_DG	19878917, 19896109, 19896113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	Night blindness	CLINVAR_DG	19896113, 20300565, 26872967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	Night blindness	GENOMICS_ENGLAND_DG	19896113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	29522070		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	29522070		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	31908403, 34064005	Associate	★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	19436059		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	31908403	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21970977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21970977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	29522070		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28843294		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28843294		★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only