PANK2 (pantothenate kinase 2)

Gene

• Entrez ID: 80025
• Gene name: Pantothenate kinase 2
• Gene symbol: PANK2
• Synonyms (NCBI Gene): C20orf48, HARP, HSS, NBIA1, PKAN
• Chromosome: 20
• Chromosome location: 20p13
• Summary: This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939088	T>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, initiator codon variant
rs137852961	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs137852962	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, missense variant
rs137852963	G>A	Pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852964	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852965	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs137852966	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs544616523	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs752078407	A>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs753376100	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs753400880	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs754521581	G>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs762879569	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs778370524	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant
rs778550409	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant
rs863223343	T>A,C	Pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs879253712	CTTTTGT>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057518915	G>A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1064794317	CTT>-	Likely-pathogenic	Intron variant, coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant, genic downstream transcript variant
rs1131691472	A>G	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs1131692166	G>C	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs1135401789	G>C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1250997630	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1261714833	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1555787646	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1555787799	T>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1555788619	->CT	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant
rs1568569941	C>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1568574931	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600534514	->TTATA	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600542260	ACTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, frameshift variant
rs1600542275	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 5 prime UTR variant
rs1600548506	G>C	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049757	hsa-miR-92a-3p	CLASH	23622248
MIRT047610	hsa-miR-10a-5p	CLASH	23622248
MIRT046370	hsa-miR-23b-3p	CLASH	23622248
MIRT041189	hsa-miR-497-5p	CLASH	23622248
MIRT039651	hsa-miR-615-3p	CLASH	23622248
MIRT036836	hsa-miR-877-3p	CLASH	23622248
MIRT720174	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT720173	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT720172	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT720171	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT471658	hsa-miR-3714	PAR-CLIP	20371350
MIRT471656	hsa-miR-302f	PAR-CLIP	20371350
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT471651	hsa-miR-940	PAR-CLIP	20371350
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT471649	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT471644	hsa-miR-1254	PAR-CLIP	20371350
MIRT471642	hsa-miR-3116	PAR-CLIP	20371350
MIRT471641	hsa-miR-4533	PAR-CLIP	20371350
MIRT471640	hsa-miR-3202	PAR-CLIP	20371350
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT471636	hsa-miR-1273e	PAR-CLIP	20371350
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471658	hsa-miR-3714	PAR-CLIP	23592263
MIRT471657	hsa-miR-3910	PAR-CLIP	23592263
MIRT471656	hsa-miR-302f	PAR-CLIP	23592263
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT471651	hsa-miR-940	PAR-CLIP	23592263
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT471649	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	23592263
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	23592263
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT471644	hsa-miR-1254	PAR-CLIP	23592263
MIRT471642	hsa-miR-3116	PAR-CLIP	23592263
MIRT471641	hsa-miR-4533	PAR-CLIP	23592263
MIRT471640	hsa-miR-3202	PAR-CLIP	23592263
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471638	hsa-miR-506-3p	PAR-CLIP	23592263
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT471636	hsa-miR-1273e	PAR-CLIP	23592263
MIRT720174	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT720173	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT720172	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT720171	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT471658	hsa-miR-3714	PAR-CLIP	20371350
MIRT471656	hsa-miR-302f	PAR-CLIP	20371350
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT471651	hsa-miR-940	PAR-CLIP	20371350
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT471649	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT471644	hsa-miR-1254	PAR-CLIP	20371350
MIRT471642	hsa-miR-3116	PAR-CLIP	20371350
MIRT471641	hsa-miR-4533	PAR-CLIP	20371350
MIRT471640	hsa-miR-3202	PAR-CLIP	20371350
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT471636	hsa-miR-1273e	PAR-CLIP	20371350
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471658	hsa-miR-3714	PAR-CLIP	23592263
MIRT471657	hsa-miR-3910	PAR-CLIP	23592263
MIRT471656	hsa-miR-302f	PAR-CLIP	23592263
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT471651	hsa-miR-940	PAR-CLIP	23592263
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT471649	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	23592263
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	23592263
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT471644	hsa-miR-1254	PAR-CLIP	23592263
MIRT471642	hsa-miR-3116	PAR-CLIP	23592263
MIRT471641	hsa-miR-4533	PAR-CLIP	23592263
MIRT471640	hsa-miR-3202	PAR-CLIP	23592263
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471638	hsa-miR-506-3p	PAR-CLIP	23592263
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT471636	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1212273	hsa-miR-1229	CLIP-seq
MIRT1212274	hsa-miR-1343	CLIP-seq
MIRT1212275	hsa-miR-151-3p	CLIP-seq
MIRT1212276	hsa-miR-203	CLIP-seq
MIRT1212277	hsa-miR-298	CLIP-seq
MIRT1212278	hsa-miR-3613-3p	CLIP-seq
MIRT1212279	hsa-miR-3667-3p	CLIP-seq
MIRT1212280	hsa-miR-3678-3p	CLIP-seq
MIRT1212281	hsa-miR-4452	CLIP-seq
MIRT1212282	hsa-miR-4463	CLIP-seq
MIRT1212283	hsa-miR-4477b	CLIP-seq
MIRT1212284	hsa-miR-4499	CLIP-seq
MIRT1212285	hsa-miR-450b-5p	CLIP-seq
MIRT1212286	hsa-miR-4639-5p	CLIP-seq
MIRT1212287	hsa-miR-4680-3p	CLIP-seq
MIRT1212288	hsa-miR-4735-5p	CLIP-seq
MIRT1212289	hsa-miR-4756-3p	CLIP-seq
MIRT1212290	hsa-miR-4765	CLIP-seq
MIRT1212291	hsa-miR-4775	CLIP-seq
MIRT1212292	hsa-miR-490-3p	CLIP-seq
MIRT1212293	hsa-miR-507	CLIP-seq
MIRT1212294	hsa-miR-557	CLIP-seq
MIRT1212295	hsa-miR-590-3p	CLIP-seq
MIRT1212296	hsa-miR-607	CLIP-seq
MIRT1212297	hsa-miR-649	CLIP-seq
MIRT1212298	hsa-miR-196a	CLIP-seq
MIRT1212299	hsa-miR-196b	CLIP-seq
MIRT2060929	hsa-miR-2355-5p	CLIP-seq
MIRT2060930	hsa-miR-3120-3p	CLIP-seq
MIRT2060931	hsa-miR-3190	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2060933	hsa-miR-3914	CLIP-seq
MIRT2060934	hsa-miR-4289	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060936	hsa-miR-4726-3p	CLIP-seq
MIRT2060937	hsa-miR-4752	CLIP-seq
MIRT2060938	hsa-miR-545	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2060940	hsa-miR-873	CLIP-seq
MIRT2587447	hsa-miR-1227	CLIP-seq
MIRT2587448	hsa-miR-129-5p	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2587449	hsa-miR-4252	CLIP-seq
MIRT2587450	hsa-miR-455-5p	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2587451	hsa-miR-889	CLIP-seq
MIRT2587447	hsa-miR-1227	CLIP-seq
MIRT2587448	hsa-miR-129-5p	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2587449	hsa-miR-4252	CLIP-seq
MIRT2587450	hsa-miR-455-5p	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2587451	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXN4	Unknown	20603201

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	30221726
GO:0004594	Function	Pantothenate kinase activity	IBA
GO:0004594	Function	Pantothenate kinase activity	IEA
GO:0004594	Function	Pantothenate kinase activity	IMP	15659606, 16272150, 17242360
GO:0004594	Function	Pantothenate kinase activity	NAS	22221393
GO:0004594	Function	Pantothenate kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	15161933, 32814053, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23152917
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15659606, 23152917
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	22221393
GO:0005758	Component	Mitochondrial intermembrane space	IDA	23152917
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IBA
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	NAS	22221393
GO:0015937	Process	Coenzyme A biosynthetic process	TAS
GO:0015939	Process	Pantothenate metabolic process	NAS	22221393
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IMP	22221393
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	IMP	22221393
GO:1904251	Process	Regulation of bile acid metabolic process	IMP	22221393

Other IDs

• MIM: 606157
• HGNC: 15894
• e!Ensembl: ENSG00000125779

Protein

• UniProt ID: Q9BZ23
• Protein name: Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2) [Cleaved into: Pantothenate kinase 2, mitochondrial intermediate form (iPanK2); Pantothenate kinase 2, mitochondrial mature form (mPanK2)]
• Protein function: [Isoform 1]: Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, Pub
• PDB: 5E26
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03630	Fumble	213 → 565	Fumble	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain (at protein level) (PubMed:15659606, PubMed:17825826). Ubiquitous (PubMed:11479594). Highly expressed in the testis (PubMed:17825826). Expressed in the umbilical vein endothelial cells (HUVEC) (PubMed:30221726).
• Sequence:

  MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRV
  REPTGREAFGPSPASSDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRL
  LLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAE
  GTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
  EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGR
  DKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQC
  YYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFG
  LCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
  REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDY
  WSKGQLKALFSEHEGYFGAVGALLELLKIP

• Sequence length: 570

Pathways

KEGG:

Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Coenzyme A biosynthesis

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
Cone-rod dystrophy	Pathogenic	rs544616523	RCV000678590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Pathogenic	rs137852968	RCV001003628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Likely pathogenic; Pathogenic	rs137852959, rs558481390, rs2515522322, rs1057518915, rs753376100, rs755653150, rs1600477446	RCV000132732 RCV003152655 RCV003326731 RCV001196626 RCV001196627 RCV002506443 RCV002245821	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration	Pathogenic	rs1057518915, rs753376100	RCV000415370 RCV000414787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PANK2-related disorder	Pathogenic	rs777111649	RCV003417114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmentary pallidal degeneration	Pathogenic; Likely pathogenic	rs1135401789, rs1360807330, rs777624606, rs1193865095, rs2146866795, rs529267374, rs2146859220, rs1375490128, rs2146872522, rs2146887806, rs2146872050, rs2146866687, rs777414421, rs1258656410, rs2515521969, rs1568550769, rs879253712, rs137852959, rs137852960, rs137852961, rs137852962, rs137852963, rs137852964, rs137852968, rs28939088, rs148987163, rs766251466, rs137852969, rs2090572220, rs1209839076, rs2515522749, rs775459398, rs780551883, rs2515522322, rs748911913, rs2515498921, rs2515506277, rs777111649, rs2515506542, rs1230118868, rs1481266018, rs1421161193, rs1350217989, rs2515424923, rs2515489381, rs2515490171, rs768230831, rs974575417, rs2090571332, rs1254386724, rs2515522711, rs2090601656, rs1328306876, rs2515500031, rs2090570190, rs2515425418, rs905986782, rs763496520, rs2515505976, rs2515424995, rs2515425812, rs1324077575, rs1568570002, rs1187082329, rs2515489787, rs2515500101, rs2515528726, rs753376100, rs1555789557, rs1064794317, rs1131692166, rs1555787799, rs778550409, rs1555787646, rs755653150, rs1261714833, rs1555788619, rs544616523, rs1568569941, rs1568574931, rs753400880, rs1600534514, rs752078407, rs1600548506, rs370766524, rs1250997630, rs1600477446, rs754521581, rs111863748, rs1600542260, rs1600542275, rs916725028, rs750440690, rs2090674600, rs2090456897, rs2090674561, rs528889529, rs368682034	RCV001331812 RCV001379451 RCV001420153 RCV003502606 RCV003992549 RCV005055022 RCV001965392 RCV001999812 RCV001935746 RCV001905178 RCV001954573 RCV001975059 RCV002266168 RCV003050551 RCV003064597 RCV002510609 RCV000004806 RCV000004807 RCV000004809 RCV000004810 RCV000004811 RCV000004812 RCV003985014 RCV000821698 RCV003984799 RCV000004821 RCV000004822 RCV000004823 RCV003153102 RCV003226007 RCV003229534 RCV003236339 RCV002469097 RCV003326731 RCV003338055 RCV003338101 RCV003389134 RCV003502731 RCV003502735 RCV003455851 RCV003486497 RCV003504088 RCV003504416 RCV003502040 RCV003502041 RCV003502042 RCV003502043 RCV003502044 RCV003502045 RCV003502046 RCV003502047 RCV003502048 RCV003502049 RCV003502050 RCV003502152 RCV003503001 RCV003611789 RCV003611809 RCV003613074 RCV003613067 RCV003613234 RCV003613368 RCV003611135 RCV003611136 RCV003611272 RCV003612472 RCV003855854 RCV003862633 RCV003851493 RCV004577098 RCV003401407 RCV000578477 RCV003502530 RCV000495834 RCV000496161 RCV000500586 RCV000529253 RCV000544004 RCV000990270 RCV000631201 RCV000631202 RCV001861860 RCV000703387 RCV000694769 RCV000684919 RCV000822290 RCV000803081 RCV000808102 RCV000803694 RCV000826147 RCV000990271 RCV000990272 RCV000990273 RCV000995828 RCV000995829 RCV001049500 RCV001069094 RCV001056669 RCV001215748 RCV001215873 RCV001206525 RCV002537709	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic	rs1568550769	RCV004817041	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs863223343, rs137852959	RCV000201489 RCV001588799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely pathogenic; Pathogenic	rs137852959	RCV004766980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Pathogenic	rs137852968	RCV005887295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERVORDEN-SPATZ SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION	—	CTD, ClinVar CTD, ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUBINSTEIN-TAYBI SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	16003113, 22027213, 25915509		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	25915509	Associate	★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Abnormal involuntary movement	Abnormal Involuntary Movement	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	29642163	Associate	★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30031384		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	29261731		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	16962235		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28821231	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical pantothenate kinase-associated neurodegeneration	Pantothenate Kinase-Associated Neurodegeneration	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	15525657		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	18239249, 21769749	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	9973098		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	15659606, 16023068, 36445406	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	BEFREE	20006850		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28701670		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	BEFREE	18443312, 29253590		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28600294		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	28821231	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	15760637, 17210889, 29253590		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	37904482	Stimulate	★☆☆☆☆ Found in Text Mining only
Classic pantothenate kinase-associated neurodegeneration	Pantothenate Kinase-Associated Neurodegeneration	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme A synthase protein associated neurodegeneration	Coenzyme A Synthase Protein Associated Neurodegeneration	BEFREE	30221726		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	22221393, 33952316	Associate	★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	37046296	Inhibit	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative brain disorder	Degenerative Brain Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	16450344, 17296847		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	16450344, 17296847		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28258830, 30031384, 30081183, 30234618		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	15525657		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	15747360, 37904482	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31540697	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37904482	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21769749	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	30026816		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	14743358, 16450344, 29962256		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	LHGDN	14743358		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	15747360, 31540697	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	37904482	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	26087139, 28821231, 31489256, 31540697, 35041927, 36445406, 37904482	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	14631201, 14743358, 15852393, 16450344, 16962235, 20694531, 27185474, 27476418, 28821231, 30633810, 31202468, 31371123, 31660701		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	LHGDN	15390030		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	31498177		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	15465096		★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	21496576		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21109939		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21109939		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	11479594, 12058097, 12510040, 15105273, 15390030, 15465096, 15525657, 15565311, 15659606, 15747360, 15843062, 15852393, 15911822, 16003113, 16149094, 16240131, 16267847, 16272150, 16416393, 16435199, 16450344, 16758184, 16775270, 16962235, 18239249, 18443312, 18981035, 19602483, 20006850, 20022530, 20669327, 21480873, 21496576, 21999968, 22057405, 22103354, 22127788, 22416811, 22515741, 22691760, 22930366, 22983956, 23212724, 23968566, 24075960, 24209433, 24655737, 24712887, 24981186, 25724846, 25915509, 26223911, 26476142, 26547561, 26549575, 27476418, 27815806, 28113101, 28456385, 28680084, 29253590, 29325618, 29522513, 29642163, 29962256, 30141000, 30173408, 30352999, 30384510, 30681573, 30740736, 30804242, 31088771, 31202468, 31300018, 31431841, 31463603, 31660701, 31738088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	UNIPROT_DG	11479594, 12510040, 15834858, 22930366, 24075960, 24655737, 27185474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	GENOMICS_ENGLAND_DG	11479594, 16240131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	CLINVAR_DG	11479594, 12058097, 12510040, 15659606, 15834858, 16023068, 16240131, 16272150, 16437574, 16450344, 17903678, 22127788, 22221393, 22682757, 24075960, 25915509, 26795593, 28357202, 28821231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	CTD_human_DG	14580665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	LHGDN	15659606, 15747360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30384510, 31214855		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	30384510		★☆☆☆☆ Found in Text Mining only
Hereditary retinal dystrophy	Hereditary Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31214855		★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	16003113, 17210889, 21496574, 29253590		★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	22027213, 29253590		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	BEFREE	12058097, 16962235		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	GENOMICS_ENGLAND_DG	16240131		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	31540697		★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	15365152, 20619503, 21496576, 22031173, 23212724, 23269600, 24209433		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	35217637	Associate	★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	30280217		★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	20669327		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	20022530		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	31371123		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30618870		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	22027213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	9973098		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31526056		★☆☆☆☆ Found in Text Mining only
McLeod neuroacanthocytosis syndrome	McLeod Neuroacanthocytosis Syndrome	BEFREE	17210889		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	15525657		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25836419, 28863176, 33396642, 33517123	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35786295	Stimulate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	16962235, 17210889, 20006850, 20939738, 25836419, 26547561, 30221726, 31055958		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	25836419, 36233161	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20939738		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21109939		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29522513		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	15659606, 16437574, 16450344, 16775270, 16921248, 16962235, 18443312, 20619503, 20629144, 20669327, 20694531, 21286947, 21816641, 21999968, 22266337, 22416811, 22515741, 22691760, 23166001, 23269600, 23436634, 23891325, 24209433, 24655737, 25592411, 25668476, 25744623, 25870938, 25915509, 28456385, 28489334, 28643035, 28863176, 29325618, 30173408, 30681573, 30740736, 31431841, 31738088		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	CTD_human_DG	20629144		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	12510040, 15659606, 16240131, 16272150, 16775270, 17631502, 18239249, 20619503, 22416811, 24098554, 25836419, 25915509, 26087139, 28821231, 28863176, 31489256, 32705819, 33396642, 35217637, 35246191, 35532650, 35786295, 36613877, 37904482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15525657, 16962235, 21816641, 21999968, 24075960, 28821231, 30141000, 31055958, 31300018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	16450344, 17296847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	37904482	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	20939738		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pallidal degeneration	Pallidal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parietal Foramina	Parietal foramina	Pubtator	36445406	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15843062, 20939738		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35786295	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	15843062, 16962235, 20694531, 21198414, 30384510		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	9973098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30078618		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	16023068	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	14631201		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	26497376		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	31540697	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	21327070, 28334870		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21899794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21899794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31314143		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, Omani type	Spondyloenchondrodysplasia	BEFREE	14580665		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31314143		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	15747360	Associate	★☆☆☆☆ Found in Text Mining only