BEST1 (bestrophin 1)

Gene

• Entrez ID: 7439
• Gene name: Bestrophin 1
• Gene symbol: BEST1
• Synonyms (NCBI Gene): ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2
• Chromosome: 11
• Chromosome location: 11q12.3
• Summary: This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940275	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs28940276	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs28940278	G>A	Not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs121918285	C>G,T	Not-provided, pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant, stop gained, non coding transcript variant
rs121918288	T>C	Not-provided, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs281865205	T>C,G	Likely-pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865207	C>T	Pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865209	G>A,C	Likely-pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865215	G>A	Pathogenic, not-provided	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865218	A>G	Uncertain-significance, likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs281865528	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs752125512	T>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs752521456	TG>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs766357080	->G	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs766379510	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs771898125	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs886041141	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs886041142	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1554964287	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1555096248	G>T	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1565382549	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1591266379	C>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1942624	hsa-miR-4277	CLIP-seq
MIRT1942625	hsa-miR-4292	CLIP-seq
MIRT1942626	hsa-miR-4690-3p	CLIP-seq
MIRT1942627	hsa-miR-486-3p	CLIP-seq
MIRT1942628	hsa-miR-515-5p	CLIP-seq
MIRT2181412	hsa-miR-4302	CLIP-seq
MIRT1942624	hsa-miR-4277	CLIP-seq
MIRT1942625	hsa-miR-4292	CLIP-seq
MIRT1942626	hsa-miR-4690-3p	CLIP-seq
MIRT1942627	hsa-miR-486-3p	CLIP-seq
MIRT1942628	hsa-miR-515-5p	CLIP-seq
MIRT2484663	hsa-miR-1178	CLIP-seq
MIRT2484664	hsa-miR-3157-5p	CLIP-seq
MIRT2484665	hsa-miR-382	CLIP-seq
MIRT2484666	hsa-miR-3973	CLIP-seq
MIRT2484667	hsa-miR-4259	CLIP-seq
MIRT2484668	hsa-miR-4260	CLIP-seq
MIRT2484669	hsa-miR-4640-5p	CLIP-seq
MIRT2484670	hsa-miR-4691-3p	CLIP-seq
MIRT2484671	hsa-miR-4715-3p	CLIP-seq
MIRT2484672	hsa-miR-4726-5p	CLIP-seq
MIRT2484673	hsa-miR-520g	CLIP-seq
MIRT2484674	hsa-miR-520h	CLIP-seq
MIRT2484675	hsa-miR-548a-5p	CLIP-seq
MIRT2484676	hsa-miR-548ab	CLIP-seq
MIRT2484677	hsa-miR-548ak	CLIP-seq
MIRT2484678	hsa-miR-548b-5p	CLIP-seq
MIRT2484679	hsa-miR-548c-5p	CLIP-seq
MIRT2484680	hsa-miR-548d-5p	CLIP-seq
MIRT2484681	hsa-miR-548h	CLIP-seq
MIRT2484682	hsa-miR-548i	CLIP-seq
MIRT2484683	hsa-miR-548j	CLIP-seq
MIRT2484684	hsa-miR-548w	CLIP-seq
MIRT2484685	hsa-miR-548y	CLIP-seq
MIRT2484686	hsa-miR-559	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CRX	Activation	18849347
MITF	Activation	14982938
MITF	Unknown	20530484
OTX1	Activation	18849347
OTX2	Activation	18849347
OTX2	Unknown	20530484
SOX9	Activation	20530484

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	11904445, 12907679, 18400985, 26720466, 35789156
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IMP	18179881, 19853238, 21330666, 26200502
GO:0005254	Function	Chloride channel activity	IDA	17003041
GO:0005254	Function	Chloride channel activity	IDA	17003041
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	TAS	17003041
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26200502
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	17003041
GO:0006821	Process	Chloride transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9662395
GO:0009925	Component	Basal plasma membrane	IDA	31791063
GO:0014047	Process	Glutamate secretion	IEA
GO:0014047	Process	Glutamate secretion	ISS
GO:0015106	Function	Bicarbonate transmembrane transporter activity	TAS
GO:0015267	Function	Channel activity	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10737974
GO:0016323	Component	Basolateral plasma membrane	IDA	11050159, 19853238, 21330666, 26200502
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022834	Function	Ligand-gated channel activity	IEA
GO:0022834	Function	Ligand-gated channel activity	ISS
GO:0030321	Process	Transepithelial chloride transport	IDA	17003041
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IDA	17003041
GO:0034707	Component	Chloride channel complex	IEA
GO:0042802	Function	Identical protein binding	IPI	19372599
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	26200502
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0061534	Process	Gamma-aminobutyric acid secretion, neurotransmission	IEA
GO:0061534	Process	Gamma-aminobutyric acid secretion, neurotransmission	ISS
GO:0098793	Component	Presynapse	IEA
GO:0098857	Component	Membrane microdomain	IEA
GO:0098857	Component	Membrane microdomain	ISS
GO:0160133	Function	Bicarbonate channel activity	IDA	18400985
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 607854
• HGNC: 12703
• e!Ensembl: ENSG00000167995

Protein

• UniProt ID: O76090
• Protein name: Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2)
• Protein function: Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:2
• PDB: 8D1I, 8D1J, 8D1K, 8D1L, 8D1M, 8D1O, 9CTQ, 9CTR, 9CTS, 9CTT, 9DYL, 9DYM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01062	Bestrophin	8 → 316	Bestrophin, RFP-TM, chloride channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
• Sequence:

  MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
  MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
  GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
  FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
  TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
  DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
  GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
  LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
  LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
  LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS

• Sequence length: 585

Pathways

Reactome:

Stimuli-sensing 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
Autosomal dominant vitreoretinochoroidopathy	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865238, rs372989281, rs1431752515, rs28940570, rs28940278, rs121918286, rs121918289, rs267606679, rs186544610, rs752125512, rs1591301548, rs267606676, rs759410076	RCV005049420 RCV005359025 RCV000763263 RCV002478405 RCV002283941 RCV003326112 RCV004795367 RCV002490299 RCV000002867 RCV000002876 RCV005356210 RCV005358033 RCV005414546 RCV002250720 RCV002290633	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive bestrophinopathy	Likely pathogenic; Pathogenic	rs1334381137, rs281865221, rs281865209, rs199529046, rs281865238, rs281865215, rs747043918, rs281865273, rs372989281, rs767103810, rs2541400072, rs28940278, rs281865528, rs121918284, rs121918286, rs121918287, rs121918288, rs186544610, rs765998048, rs62637337, rs886041142, rs1417478879, rs775283269, rs1555096248, rs752521456, rs281865225, rs1431752515, rs1554964287, rs1565392261, rs752125512, rs1591284563, rs374517178, rs750102662, rs748685592	RCV002223306 RCV005049420 RCV005867899 RCV000169651 RCV000763263 RCV003152682 RCV005868327 RCV004699612 RCV005252765 RCV002222859 RCV002288308 RCV004795367 RCV003152665 RCV000002863 RCV000002864 RCV000002865 RCV000002866 RCV005356210 RCV004796142 RCV004796143 RCV003152701 RCV004787070 RCV000625550 RCV001353022 RCV000606825 RCV000625593 RCV000625591 RCV000625654 RCV000735775 RCV005358033 RCV001029842 RCV004819238 RCV001352945 RCV001352993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BEST1-related disorder	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865263, rs2134453127, rs753334817, rs281865528, rs121918284, rs2541354342, rs886041142, rs2541399701, rs1591284563, rs62639270, rs750102662	RCV004529902 RCV000312619 RCV004724805 RCV005868490 RCV004538687 RCV004732527 RCV004532276 RCV004733558 RCV004529457 RCV004539359 RCV005866745 RCV004536108 RCV004538493	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BEST1-related dominant retinopathy	Likely pathogenic; Pathogenic	rs121918284	RCV005364864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated macular dystrophy	Likely pathogenic; Pathogenic	rs886041141, rs1565387045	RCV001199441 RCV001199445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs281865239, rs281865255, rs886041141, rs1225032182, rs368383940	RCV000787544 RCV000787546 RCV004798822 RCV000787538 RCV004798885	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	Likely pathogenic	rs121918290	RCV000002868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs281865251, rs281865265, rs28940570	RCV006270221 RCV006276069 RCV006270213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs747043918, rs2134440476, rs28940276, rs2134440586, rs372989281, rs28940274, rs28941468, rs28941469, rs121918283, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs2541396017, rs758726044, rs2541363953, rs28940273, rs765998048, rs886039311, rs886041141, rs886041142, rs778771960, rs2541372043, rs1417478879, rs2541396155, rs771898125, rs775283269, rs766379510, rs281865531, rs1555096248, rs1555099048, rs752521456, rs1431752515, rs1554963058, rs1555098634, rs1225032182, rs281865263, rs1942169028, rs778645644, rs766357080, rs28940275, rs775791299, rs1209208472, rs1382219910, rs980876322, rs762398929, rs1942208203, rs1941247515, rs1941898895, rs374517178, rs1941252350, rs1941503926	RCV004815142 RCV004815143 RCV001073510 RCV004815145 RCV001073998 RCV004815146 RCV004815147 RCV004815148 RCV001075157 RCV001075881 RCV001073491 RCV004815152 RCV001073253 RCV004815153 RCV004815154 RCV001074234 RCV004815155 RCV004815156 RCV004815157 RCV004815158 RCV004815160 RCV004815161 RCV004815162 RCV004815164 RCV001073527 RCV001073273 RCV001074846 RCV004815165 RCV001075792 RCV004815166 RCV004815167 RCV001073777 RCV004815168 RCV004815169 RCV004815514 RCV004815603 RCV004816910 RCV004815745 RCV004816830 RCV003888561 RCV004817005 RCV001073456 RCV004814806 RCV001073354 RCV004814807 RCV004814808 RCV001075633 RCV004814810 RCV001074224 RCV001075875 RCV004814811 RCV004814812 RCV001074078 RCV004817189 RCV004817190 RCV004817222 RCV004817223 RCV004817148 RCV004816467 RCV001075688 RCV001075804 RCV004816470 RCV004818377 RCV004818421 RCV004818432 RCV003889584 RCV004816683 RCV004816696 RCV004816728 RCV004816733 RCV000505001 RCV004817734 RCV004817816 RCV004817824 RCV004817856 RCV001075495 RCV004818000 RCV004818001 RCV004818145 RCV004818180 RCV004818181 RCV001074422 RCV004813694 RCV001074250 RCV001073429 RCV001073993 RCV001074522 RCV001075759 RCV001074880 RCV001075291 RCV004813726 RCV004814059 RCV004814054	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs372989281, rs1555099048	RCV000132651 RCV000505128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 50	Likely pathogenic; Pathogenic	rs281865221, rs199529046, rs281865238, rs372989281, rs28940278, rs121918286, rs267606680, rs267606677, rs186544610, rs752125512	RCV005049420 RCV005359025 RCV000763263 RCV002478405 RCV004795367 RCV002490299 RCV000002870 RCV000002874 RCV005356210 RCV005358033	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe early-childhood-onset retinal dystrophy	Likely pathogenic; Pathogenic	rs759410076	RCV005626347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Likely pathogenic; Pathogenic	rs1389863115, rs121918284, rs1591303900, rs1591266591	RCV003389499 RCV000787541 RCV000787536 RCV000787797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitelliform macular dystrophy 1	Likely pathogenic; Pathogenic	rs28940570	RCV003448243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitelliform macular dystrophy 2	Likely pathogenic; Pathogenic	rs1941816094, rs281865221, rs281865207, rs199529046, rs281865212, rs281865238, rs281865239, rs281865241, rs281865213, rs281865214, rs281865215, rs281865253, rs281865255, rs281865218, rs1295669283, rs370835731, rs2134430116, rs2134409684, rs372989281, rs2134444981, rs886622502, rs281865259, rs281865204, rs672601356, rs28940273, rs28940274, rs28941468, rs121918285, rs28941469, rs28940275, rs121918283, rs28940276, rs1800995, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs267606677, rs2541362236, rs186544610, rs886039311, rs886041141, rs1555099048, rs281865205, rs1555100476, rs1554963095, rs1555098634, rs1554963058, rs1565036465, rs1565382549, rs752125512, rs1591266379, rs1225032182, rs1591283811, rs281865262, rs281865263, rs748351421, rs1591280478, rs1591280714, rs1591283793, rs1159966472, rs1591301548, rs727503824, rs1942169028, rs1591284563, rs374517178, rs759410076, rs748685592	RCV001352947 RCV005049420 RCV001002886 RCV001376213 RCV005252757 RCV000763263 RCV001002892 RCV001002893 RCV006252438 RCV001352979 RCV001002887 RCV005417960 RCV001002895 RCV000761260 RCV001542477 RCV002272465 RCV001591903 RCV005623103 RCV002478405 RCV002249296 RCV002287762 RCV002287779 RCV002289134 RCV000149459 RCV000002846 RCV000002847 RCV000002848 RCV000002849 RCV000002850 RCV000002851 RCV000002854 RCV000002855 RCV000002857 RCV000002858 RCV000002860 RCV000002861 RCV000002862 RCV002490299 RCV000002873 RCV005235669 RCV005356210 RCV001002894 RCV001376382 RCV005418177 RCV000664327 RCV001199444 RCV000590969 RCV000655874 RCV000661905 RCV000754762 RCV000761261 RCV000761419 RCV000779068 RCV000787542 RCV000787537 RCV000787539 RCV000787547 RCV000787548 RCV000787549 RCV000988567 RCV001002888 RCV001002889 RCV001002890 RCV001002896 RCV001199442 RCV001199443 RCV003989627 RCV005235515 RCV001103323 RCV001198877 RCV001376459	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEST VITELLIFORM MACULAR DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy 6	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, VITELLIFORM, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, VITELLIFORM, 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
maculopathy	Uncertain significance	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
NANOPHTHALMOS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL CONE DYSTROPHY 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA, CONCENTRIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-cone dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITELLIFORM MACULAR DYSTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINOCHOROIDOPATHY	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult type dermatomyositis	Dermatomyositis	BEFREE	8440993		★☆☆☆☆ Found in Text Mining only
Adult-onset foveomacular vitelliform dystrophy	Foveomacular Vitelliform Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	10854112, 16885924, 17898294, 21269699, 24560797, 28831140		★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	ORPHANET_DG	10854112		★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	10453731, 10737974, 10798642, 10854112, 13129869, 16707793, 16885924, 17898294, 24664688, 26427483, 26468292, 31254423, 9662395		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	16707793		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	28471956		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	23335596		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31646011		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27653240		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	21473666, 21921978, 27078032, 28056057		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28421263, 30690799, 30708186		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	23772785, 28694162, 29458121, 29653285, 30853658		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17109061		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30374631		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17109061		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	31875420	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	19063686, 30496603		★☆☆☆☆ Found in Text Mining only
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	BEFREE	15452077, 16707793, 18179881, 18309337, 18611979, 21072067, 24560797, 24564716, 26771239, 26849243, 30222024		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	UNIPROT_DG	15452077		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	GENOMICS_ENGLAND_DG	15452077		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	ORPHANET_DG	18611979, 21072067		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive bestrophinopathy	Bestrophinopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	1427789, 1676564, 17620052, 1822792, 22137979, 22792070, 24225992, 26364686, 29356845, 29624722, 29973226, 30355512, 31628810, 31689503, 3777019, 6086495, 8246010, 8411067, 8440993		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	32111077	Associate	★☆☆☆☆ Found in Text Mining only
Best vitelliform macular dystrophy	Vitelliform Macular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bestrophinopathy	Bestrophinopathy	Pubtator	21738390, 25489231, 27163236, 28831140, 29976937, 30781664, 31766397, 31836750, 32111077, 32421148, 34061021, 34327816, 36378562, 37747403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	CLINVAR_DG	10788642, 10798642, 19375515, 21273940, 21330666, 22422030, 26333019, 26720466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	GENOMICS_ENGLAND_DG	15452077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	18179881, 19853238, 21203346, 21330666, 21412020, 21738390, 22162627, 22199244, 22584882, 23290749, 24560797, 25545482, 26200502, 26333019, 26716959, 26720466, 27519691, 27764019, 28481155, 28687848, 28831140, 29540715, 29668979, 29976937, 30578502, 30593719, 31254423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	ORPHANET_DG	18179881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	UNIPROT_DG	18179881, 19853238, 21330666, 26200502, 26720466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	29063836	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17288970		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28083668, 29245225		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21442472		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10235436, 30326162, 7900621		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27967225, 29806852		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37076855	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	37076855	Associate	★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15176994, 30099930, 31230659		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31105770		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	31105770		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30193871		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28607554		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29286560		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	29693762		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	30498755	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28497224		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29848495, 31138899, 31493202, 31619367		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29564475, 30374631		★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	18574215		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	31587319		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23667215, 28189999, 28244205, 28602366, 29151496, 29239515, 29477488, 30685104, 31023122, 31302043, 31713710		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28473134		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28607554, 31483010		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28993955, 30149380		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35260635	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30719548		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	17361457		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18683213, 19823864, 2208650		★☆☆☆☆ Found in Text Mining only
Cystoid macular retinal degeneration	Cystoid Macular Retinal Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29164146, 29855443, 31646011		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	8440993		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28161747, 28580510, 28752555, 28927644, 29209815, 29250918, 29450584, 29632617, 30483848, 30586745, 31626938		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28161747, 28580510, 28752555, 28927644, 29132091, 29209815, 29250918, 29450584, 29632617, 30483848, 30586745, 31626938, 31659742		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27658727, 28599824, 30099930, 30406893, 31034056		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15201543, 19453255, 27658727, 28599824, 29322222, 30009330, 30030585, 30172742, 30235494, 31842578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	23116220		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	18849600, 29635129, 30882626, 31201013, 31464019		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	15452077		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	19398034, 9439653		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	10453731, 10737974, 11328725, 11713080, 13129869, 21809908, 22174098, 28111324, 29721958		★☆☆☆☆ Found in Text Mining only
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	BEFREE	12632325, 16987891, 17826093		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31494745		★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	10235436, 10465346, 10480348, 10573008, 12102170, 12632325, 1362673, 1412702, 1433447, 14641995, 14695533, 15118904, 15488030, 15845029, 15923398, 1621929, 16936400, 16987891, 1785656, 17952667, 1863988, 18653336, 1867267, 18996010, 19084397, 19269824, 19409785, 1974880, 19927354, 21399986, 2208650, 2227948, 22379338, 22533379, 23224783, 23667215, 23934597, 25131993, 25416089, 25482253, 2585468, 27150296, 2821406, 28734761, 2903662, 29790927, 3169738, 7900621, 7951253, 8329890, 8737397		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31302886		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	27939877		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28385651		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	26824232		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	28012019		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26727275		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39674551	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21442472		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	21072067	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28448764		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27427791		★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	25082885		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	18574215		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	25063548		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	15824853		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28056057	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	21921978, 24859690, 28056057, 30593719, 32646389, 35768830, 40414863	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29954010		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23667215, 28189999, 28244205, 28602366, 29151496, 29239515, 29477488, 30685104, 31023122, 31302043, 31713710		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10439967		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	29774402		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	31136739		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30928333		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	30781664, 37041514	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28988401, 29589297, 30396209		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16061040, 20584071, 30217371, 30444137, 30501623, 30586745, 31626938		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	23574351		★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10800759		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30270542		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30645771		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16450309, 28421263, 28993955		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27703044		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	10854112, 9700209		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	ORPHANET_DG	16754206		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28885621		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29980453		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28927644, 31619367		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28497224		★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	25082885		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30485284		★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	16707793, 17898294, 24664688, 26427483, 9662395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration	Macular degeneration	Pubtator	16885924, 20057903, 32707085, 37041716, 39596324	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Macular dystrophy	CLINVAR_DG	30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Macular dystrophy	BEFREE	31254423		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular Dystrophy Retinal 2	Macular dystrophy	Pubtator	33988224	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	29789916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28083668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29105106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15729726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31189088		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15729726, 28526284		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29443044		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	31805121		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16061040, 29759558		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	ORPHANET_DG	15452077		★☆☆☆☆ Found in Text Mining only
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	15452077, 19398034		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	ORPHANET_DG	19375515		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	37076855	Associate	★☆☆☆☆ Found in Text Mining only
MRCS syndrome	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28079810		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	1865235, 22137979		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	1301134, 1326712, 1476571, 16137182, 1684565, 16891620, 16934185, 17145200, 18663755, 19473085, 19475718, 19783145, 21305566, 21354051, 21396098, 23574351, 23650001, 23756440, 24225992, 25037084, 25076844, 2568331, 26911353, 27593222, 29847600, 3398004, 7611292, 8199594, 8281150, 8614119, 9541101		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	1427789, 1676564, 23453023, 2610487, 29973226, 3614347, 8246010, 8585572		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15201543, 30047817		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16987891, 24225992, 25416089, 27750387, 8737397		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	9364465		★☆☆☆☆ Found in Text Mining only
Nanophthalmos	Nanophthalmos	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15729726, 21057539, 25663464		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	28885621		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21072067, 31263784	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	18663755, 23756440, 26911353, 27150296, 29847600		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30083134		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23891823, 27468902, 27759063, 29082431, 29693762, 30623213, 30853658, 31622774		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	BEFREE	10439967		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	22487062, 29946973, 30913006, 7934978		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	31051315		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	15312249, 15940361, 15967485, 16753015, 17295608, 17620052, 18505373, 18810303, 21104233, 21344539, 23133532, 25980946, 27509834, 27744012, 27924381, 28527105, 29018923, 29632617, 29653285, 29788459, 29931598, 30232913, 30235494, 30433815, 30537473, 30601581, 30660675, 31378815, 31720706, 31823822		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15040830, 15125790, 15176998, 15355556, 15777680, 15782282, 15824850, 16168727, 16355283, 16598376, 16939402, 17002564, 17243864, 17451372, 18597038, 19113921, 19338455, 20064633, 21773993, 23522429, 23891823, 24285685, 25980946, 26191288, 26458888, 27311723, 27492435, 27509834, 27924381, 27966104, 27989648, 28122309, 28144701, 28161747, 28175980, 28188561, 28265896, 28315954, 28373146, 28521691, 28599824, 28695762, 28748386, 28854271, 28936598, 29062234, 29245225, 29330445, 29397409, 29541794, 29564475, 29632617, 29637658, 29653285, 29691807, 29738949, 29740667, 29806852, 29860063, 29924424, 30172742, 30232913, 30235494, 30537473, 30573396, 30610244, 30660675, 30690799, 30963310, 30972028, 31025211, 31067339, 31153568, 31188908, 31189982, 31273389, 31352490, 31378815, 31432256, 31628810, 31646011, 31669252, 31720706, 31740343, 31754754, 31786628, 31820121		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	15824850, 29769605		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	18690485, 28413771, 30312984		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31646011		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	21344539		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15729726		★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	19372599	Associate	★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	32882766	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31646011		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28473134, 28607554		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	31587319		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	23574351		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28611442		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	8440993		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	26824232, 29101669, 30347474		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	16580273		★☆☆☆☆ Found in Text Mining only
Presenile cataract	Presenile Cataract	BEFREE	26849243		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31189088		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	27509834, 29574518, 29788459		★☆☆☆☆ Found in Text Mining only
Retinal cone dystrophy 2	Retinal Cone Dystrophy	BEFREE	31470097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Degeneration	Retinal degeneration	Pubtator	27193166	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	37761846	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10854112, 18179881, 21192766, 21498618, 21878505, 27287821, 27764019, 28111324, 28153808, 29668979, 29976937, 30628889		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	LHGDN	17698758		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	29063836, 30199040, 30628889, 31836750, 32423767, 34061021, 38160664, 40724865	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	19853238, 22162627, 26849243		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	23290749		★☆☆☆☆ Found in Text Mining only
Retinal nonattachment	Retinal nonattachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19853238, 24560797, 26825853		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19853238, 35656873	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa Concentric	Retinitis pigmentosa	Pubtator	31766397	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	15452077		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)	Retinitis Pigmentosa	UNIPROT_DG	19853238		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	32646389	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11930657, 27509834, 28854271, 29574518, 29788459, 31823822		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	BEFREE	12025436		★☆☆☆☆ Found in Text Mining only
Scleral staphyloma	Scleral staphyloma	GENOMICS_ENGLAND_DG	15452077		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	30847477		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22137979		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37088729	Associate	★☆☆☆☆ Found in Text Mining only
Staphyloma posticum	Staphyloma posticum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	28050124, 33988224, 36264634	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CLINVAR_DG	30718709		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	31721088		★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	23617333	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	27882423		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28993955		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	35656873	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	40414863	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21293734, 29063836	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	27900428, 29564475		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	29976937	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	UNIPROT_DG	10331951, 10394929, 10453731, 10682987, 10798642, 11241846, 11449320, 12187431, 12324875, 13129869, 14517959, 15176385, 18400985, 18766995, 19357557, 21330666, 9662395, 9700209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	10394929, 10453731, 10682987, 10737974, 10798642, 10854112, 11241846, 11449320, 11713080, 12032738, 12187431, 12324875, 12565808, 13129869, 14517959, 15452077, 15808248, 16600174, 16754206, 17110374, 17287362, 17460247, 17477921, 17620052, 17898294, 18179881, 18703557, 18766995, 18849347, 19398034, 19597114, 19823864, 19853238, 20057343, 20057903, 20375334, 20377369, 20381869, 21077756, 21109774, 21242858, 21269699, 21273940, 21293734, 21320969, 21436265, 21467170, 21473666, 21738390, 21809908, 22084158, 22162627, 22422030, 22633354, 22792070, 23213274, 23765342, 23825107, 24225992, 25082885, 25085631, 25174897, 25878489, 25936525, 26099059, 26201355, 26364686, 26807628, 27031371, 27078032, 27287821, 27764019, 27775230, 28111324, 28590961, 28687848, 28791410, 28831140, 29115605, 29356845, 29624722, 29664989, 29668979, 29781975, 29976937, 30124653, 30355512, 31146250, 31201163, 31254423, 31518904, 31570112, 31628810, 31836750, 7713492, 7860071, 8411067, 8807324, 9662395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CLINVAR_DG	10798642, 11756879, 18703557, 21467170, 24560797, 30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	GENOMICS_ENGLAND_DG	15452077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	ORPHANET_DG	16754206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	16865191, 16885924, 17287362, 18179881, 19372599, 19597114, 19635817, 19853238, 20057903, 21109774, 21293734, 21738390, 21921978, 22084158, 22162627, 22422030, 22633354, 23213274, 23617333, 23633665, 23765342, 24791142, 25082885, 25489231, 25878489, 25936525, 27071392, 27287821, 27775230, 28590961, 28791410, 28831140, 29115605, 29660606, 29976937, 30498755, 30781664, 31070670, 31146250, 31518904, 31570112, 31766397, 31836750, 32111077, 32239196, 32416576, 32421148, 32707085, 34015078, 34327816, 35806438, 35900727, 36512348, 37076855, 7977378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinochoroidopathy	Vitreoretinochoroidopathy	Pubtator	16707793, 18179881, 21072067, 32111077	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	28777835	Associate	★☆☆☆☆ Found in Text Mining only