CYP27A1 (cytochrome P450 family 27 subfamily A member 1)

Gene

• Entrez ID: 1593
• Gene name: Cytochrome P450 family 27 subfamily A member 1
• Gene symbol: CYP27A1
• Synonyms (NCBI Gene): CP27, CTX, CYP27
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72551312	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant
rs72551313	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs72551314	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs72551315	C>T	Pathogenic	Coding sequence variant, stop gained
rs72551316	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs72551317	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs72551318	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs72551319	A>T	Pathogenic	Coding sequence variant, stop gained
rs72551320	A>G	Pathogenic	Coding sequence variant, missense variant
rs72551322	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72551323	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs79535262	G>C	Likely-pathogenic	Splice donor variant
rs111570247	A>C,G	Pathogenic	Splice acceptor variant
rs121908096	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908097	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908098	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908099	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908102	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs138596741	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139279260	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139415581	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs141519183	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs143600636	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144455258	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148132118	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149897566	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs188850202	C>T	Pathogenic	Coding sequence variant, stop gained
rs191313794	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199691576	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200553205	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs200883871	G>C	Pathogenic	Coding sequence variant, missense variant
rs201114717	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs201346271	G>C	Pathogenic	Coding sequence variant, missense variant
rs374507635	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs376230356	G>A	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs397515353	G>A	Pathogenic	Splice acceptor variant
rs397515354	G>A,C,T	Pathogenic	Splice donor variant
rs397515355	G>A,T	Pathogenic	Splice donor variant
rs397515356	TGGCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs533885672	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs573951598	C>T	Pathogenic	Coding sequence variant, missense variant
rs575064188	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778777	G>A	Pathogenic	Splice donor variant
rs587778778	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587778779	G>A,T	Pathogenic	Splice acceptor variant
rs587778780	C>G	Pathogenic	Missense variant, coding sequence variant
rs587778782	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778783	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs587778784	G>A,T	Pathogenic	Intron variant
rs587778785	G>A	Pathogenic	Splice acceptor variant
rs587778787	C>T	Pathogenic	Missense variant, coding sequence variant
rs587778790	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778793	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778794	CCAGTAC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778795	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs587778796	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs587778797	G>A,T	Pathogenic	Splice donor variant, intron variant
rs587778800	G>T	Pathogenic	Stop gained, coding sequence variant
rs587778802	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778804	G>T	Pathogenic	Splice acceptor variant
rs587778807	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778808	C>A	Pathogenic	Stop gained, coding sequence variant
rs587778810	G>A	Pathogenic	Stop gained, coding sequence variant
rs587778812	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778815	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778818	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs730882199	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs753981913	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs755532803	CGAGAAACGCATT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs765512351	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771819245	C>T	Pathogenic	Coding sequence variant, stop gained
rs777935791	T>C	Likely-pathogenic	Splice donor variant
rs886041342	->TGGGCTGCGC	Likely-pathogenic, pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs886044581	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886556800	G>T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs1057519469	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1160640803	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs1178297854	C>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs1178393503	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1319938730	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1343936087	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1406298698	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1470602732	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553614310	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1553616235	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553616253	T>C	Likely-pathogenic	Splice donor variant
rs1553616312	A>G	Likely-pathogenic	Splice acceptor variant
rs1553616457	A>C,T	Likely-pathogenic	Splice acceptor variant
rs1553616478	A>G	Likely-pathogenic	Splice acceptor variant
rs1553616508	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559384522	->C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1559391390	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1559391480	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1559392331	CG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1575206357	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575206688	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT921194	hsa-miR-1266	CLIP-seq
MIRT921195	hsa-miR-19a	CLIP-seq
MIRT921196	hsa-miR-19b	CLIP-seq
MIRT921197	hsa-miR-3650	CLIP-seq
MIRT921198	hsa-miR-3914	CLIP-seq
MIRT921199	hsa-miR-3936	CLIP-seq
MIRT921200	hsa-miR-4455	CLIP-seq
MIRT921201	hsa-miR-4518	CLIP-seq
MIRT921202	hsa-miR-4651	CLIP-seq
MIRT921203	hsa-miR-4708-3p	CLIP-seq
MIRT921204	hsa-miR-608	CLIP-seq
MIRT921205	hsa-miR-873	CLIP-seq
MIRT921206	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Unknown	12957378
NR0B2	Unknown	15581596
SP1	Activation	11867220
SP3	Activation	11867220

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	9660774, 11412116
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IDA	9660774
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	TAS	9790667
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IDA	9660774
GO:0020037	Function	Heme binding	IEA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IBA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	15465040
GO:0031073	Function	Cholesterol 26-hydroxylase activity	IBA
GO:0031073	Function	Cholesterol 26-hydroxylase activity	IDA	9660774, 12077124
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IBA
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IDA	15465040
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0044283	Process	Small molecule biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047748	Function	Cholestanetetraol 26-dehydrogenase activity	IDA	11412116
GO:0047748	Function	Cholestanetetraol 26-dehydrogenase activity	IEA

Other IDs

• MIM: 606530
• HGNC: 2605
• e!Ensembl: ENSG00000135929

Protein

• UniProt ID: Q02318
• Protein name: Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase)
• Protein function: Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	61 → 526	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002). {ECO:0000269|PubMed:21411718, ECO
• Sequence:

  MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEI
  PRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQ
  EGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNE
  VIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
  VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAA
  GPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEA
  LHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK
  NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
  IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC

• Sequence length: 531

Pathways

KEGG:

Primary bile acid biosynthesis
Metabolic pathways
PPAR signaling pathway
Cholesterol metabolism

Reactome:

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Endogenous sterols
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)

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
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs72551322, rs121908096, rs397515356, rs121908102, rs111570247, rs1559391480, rs587778777, rs587778778, rs573951598, rs1553616457	RCV005809211 RCV005318309 RCV004018554 RCV005549905 RCV004022314 RCV002352292 RCV004018984 RCV005318320 RCV004992000 RCV005540333	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestanol storage disease	Likely pathogenic; Pathogenic	rs1559392634, rs1413976755, rs532134925, rs2105981299, rs1165952837, rs1325218192, rs2105978950, rs1575206658, rs2105981099, rs72551321, rs2105979879, rs751969035, rs2105980214, rs2105981050, rs2105978931, rs1559392904, rs1333458369, rs199638075, rs2105981231, rs1943736101, rs587778777, rs2105981467, rs761663976, rs72551322, rs2105980153, rs1398584213, rs2106479076, rs1943756375, rs2470223633, rs2470228996, rs2470226900, rs2470226435, rs2470223719, rs149897566, rs2470226967, rs201114717, rs2470229842, rs1449962580, rs79535262, rs397515354, rs121908096, rs397515353, rs121908097, rs121908098, rs121908099, rs397515355, rs72551313, rs397515356, rs121908102, rs1425208118, rs1943401478, rs760323157, rs2470230045, rs587778818, rs2470229117, rs2470226536, rs2470226337, rs2470229058, rs2470201816, rs886041342, rs1169227791, rs1339553782, rs2470223501, rs1943725257, rs1454908929, rs2470229911, rs1301870550, rs2470227581, rs2470227698, rs1325993773, rs2470227377, rs2470229147, rs2470229179, rs1323697541, rs2470226358, rs2470226391, rs2470230328, rs2470226647, rs2470230339, rs2470226909, rs2470226496, rs1943763473, rs765512351, rs587778804, rs2470229906, rs2470230145, rs2470228964, rs2470201771, rs1943755840, rs2470201839, rs2470202191, rs2470226691, rs553140875, rs2470226845, rs2470229009, rs2470227436, rs1314269374, rs2470223574, rs1943397479, rs1057519469, rs111570247, rs587778797, rs587778779, rs575064188, rs1553614310, rs886556800, rs1553616457, rs560108684, rs1553616235, rs777935791, rs1553616478, rs1553616253, rs1553616312, rs1178393503, rs1553616508, rs533885672, rs1559392331, rs771819245, rs1559391390, rs1559391480, rs758739930, rs1575206688, rs200553205, rs72551320, rs587778778, rs587778780, rs573951598, rs587778782, rs587778784, rs587778785, rs587778787, rs587778790, rs587778794, rs376230356, rs587778796, rs72551314, rs587778800, rs587778802, rs201346271, rs72551315, rs587778807, rs72551316, rs587778808, rs72551317, rs587778810, rs72551318, rs587778812, rs72551319, rs587778815, rs1160640803, rs188850202, rs1319938730, rs1559384522, rs1575206357, rs1943770060, rs1163340926, rs1943398587, rs1943742261, rs1943689487, rs1943689766, rs1943689944, rs1943690848, rs186812403, rs1414259537, rs1943736070, rs1943741125	RCV001970073 RCV001390450 RCV001383667 RCV001381385 RCV003470853 RCV001902771 RCV001990565 RCV002032326 RCV001872738 RCV001888764 RCV001998853 RCV002040230 RCV001953748 RCV001953860 RCV001908625 RCV001980037 RCV001911906 RCV001900808 RCV001976677 RCV001939665 RCV002025260 RCV001946909 RCV001951265 RCV001949995 RCV001951410 RCV001952079 RCV001907858 RCV002222882 RCV002306539 RCV002309688 RCV002310058 RCV002308316 RCV002309191 RCV002309461 RCV002310214 RCV002308422 RCV002465059 RCV002468869 RCV002469991 RCV003069580 RCV003086015 RCV002651606 RCV000004476 RCV000004477 RCV000004478 RCV000004479 RCV000004480 RCV000004481 RCV000004482 RCV000004483 RCV000004484 RCV000004485 RCV000004486 RCV000004487 RCV002612937 RCV002601855 RCV002640045 RCV002627673 RCV002706559 RCV002838064 RCV002834003 RCV002837679 RCV002862939 RCV002853006 RCV002867753 RCV002877607 RCV003123404 RCV000595588 RCV003475577 RCV003466087 RCV003466088 RCV003466089 RCV003466090 RCV003466091 RCV003459944 RCV003466092 RCV003459945 RCV003459946 RCV003466093 RCV003466094 RCV003459947 RCV003466095 RCV003466096 RCV003466097 RCV003466098 RCV003466099 RCV003459949 RCV003466100 RCV003466101 RCV003502892 RCV003503559 RCV003503734 RCV000307005 RCV003504526 RCV003504527 RCV003504528 RCV003502153 RCV003502479 RCV003504003 RCV003504062 RCV003613186 RCV003613131 RCV003611307 RCV003612241 RCV003860384 RCV004575757 RCV004575758 RCV004575759 RCV004575760 RCV004575761 RCV000416454 RCV001833525 RCV001386295 RCV001067046 RCV001045736 RCV000665890 RCV000668882 RCV000669626 RCV000673959 RCV000665492 RCV000673829 RCV000671605 RCV000666900 RCV000667543 RCV000670919 RCV000674414 RCV000670416 RCV000670341 RCV000666864 RCV000698198 RCV001229793 RCV001855812 RCV000778595 RCV000779307 RCV000796394 RCV000056065 RCV000056067 RCV000056073 RCV000056074 RCV000056075 RCV000056076 RCV000056078 RCV000056079 RCV000056081 RCV000056084 RCV000056090 RCV000056101 RCV000056109 RCV000056110 RCV000056111 RCV000056114 RCV000056116 RCV000056118 RCV000056123 RCV000056127 RCV000056130 RCV000056131 RCV000056136 RCV000056139 RCV000056140 RCV000056141 RCV000056144 RCV000056145 RCV000056148 RCV000056149 RCV000056153 RCV000056156 RCV000056176 RCV000056246 RCV000987032 RCV003769365 RCV001203126 RCV001860601 RCV001202900 RCV001246808 RCV001243335 RCV001233210 RCV001234345 RCV001264088 RCV001264207 RCV001264208 RCV001264209 RCV001264210 RCV001264211 RCV001264212 RCV001264213	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP27A1-related disorder	Pathogenic; Likely pathogenic	rs72551322, rs121908096, rs121908097, rs121908098, rs397515355, rs397515356, rs121908102, rs765512351, rs575064188, rs886556800, rs560108684, rs1553616253, rs587778777, rs201114717, rs376230356, rs587778796, rs201346271, rs587778812, rs587778818, rs188850202, rs1575206357	RCV003398444 RCV003974793 RCV003415650 RCV003982823 RCV004748497 RCV004748498 RCV003430633 RCV003422309 RCV004748850 RCV004748891 RCV004748897 RCV004723050 RCV004748547 RCV003415826 RCV004748548 RCV003915020 RCV003964910 RCV004724788 RCV003894910 RCV003928633 RCV003413800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs121908096, rs121908099	RCV001252460 RCV001252459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 1	Likely pathogenic; Pathogenic	rs79535262	RCV005645423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Pathogenic	rs587778777	RCV005890389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROTENDINOUS XANTHOMATOSIS	—	ClinGen, GenCC, HPO, Orphanet ClinGen, GenCC, HPO, Orphanet ClinGen, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature coronary artery atherosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Regression of motor development with severe dystonia and corresponding basal ganglia lesions	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHOMATOSIS, CEREBROTENDINOUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	30544401	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22820291, 23479405		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	20406759, 22509407, 25415378	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22509407, 23759795, 25415378		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	23759795		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11111083, 11166758, 19801147, 24080357		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	32344004	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31744213		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25845986		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10869358, 12597773, 12777473, 15533057, 35428606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	11111083, 11166758, 19801147, 24080357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	11166758, 19801147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	15533057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28894950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Atresia	Biliary atresia	Pubtator	34615940	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30563407		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25818344, 30405638, 34491903	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21997141	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	35597928	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	11212160, 24014423, 27278385	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	33670411	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35428606	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28385266, 28442559, 29116467, 29192124		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19651608, 25060521, 29116467, 33176848, 35011656, 37584152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23625514	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	24732451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30563407		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29250167		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	26463745		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21498512	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29951035		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	12154203		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26622071, 38216115	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27225395, 28229379		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	29434128, 7915755, 9186905, 9548584	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	35428606, 7915755, 9186905, 9548584	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	BEFREE	20450308		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31796091	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrotendinous xanthomatosis	Cerebrotendinous Xanthomatosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	19995447	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	15795599, 30077711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	15795599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestatic liver disease	Cholestatic liver disease	BEFREE	28937538		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	19995447		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31796091	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27341022, 32651213	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24080357		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24080357		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24080357		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	28851260	Stimulate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	26844446	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	BEFREE	11486904		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	24730053, 27259383		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29249638		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29249638		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29249638	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28239825	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35257412	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29552033		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29951035		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927, 8728324	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27259383		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24732451, 29371332	Associate	★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29935100, 31706011		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	24381012		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28749476		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28749476	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18436822		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30008822		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30008822		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20450308		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35597928	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37909603	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	23041327		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	16477808, 8730343		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31796091		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	1320501, 26643207, 28894950		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leprosy	Leprosy	Pubtator	38273053	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31650199	Associate	★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	10775536, 1817043, 28623566, 8728324		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10541881, 16077914, 21615622, 7690968		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	24381012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	10541881, 7690968		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21498512	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28385266, 28442559, 29116467, 29192124, 29733910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	12745462		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29250167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19255064, 22499501, 28130224, 30867220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26463745		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30563407		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28130224, 29021522, 30867220		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17172823, 33794192	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	24381012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor neuron disease	Pubtator	22509407	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30405638	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28337550, 30088172		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	24014423	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28130224, 28442559, 29249638, 31048561		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	12777473	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28337550		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33891937	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16157755, 29192124		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29250167		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29951035, 30819824		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	24381012		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35597928	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36906636	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	10406988	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10406988		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	1817044, 29951035		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19255064, 22499501, 28130224, 30867220		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20583133, 35075375	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30867220	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	23995795, 38273053	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26463745, 27573000		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	15466366		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31952466	Associate	★☆☆☆☆ Found in Text Mining only
Reflex Epilepsy, Photosensitive	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	2019602		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	23885216	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15148325		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	28526240		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	37024986	Associate	★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy Type IV	Spinal muscular atrophy	Pubtator	25941960	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37210507, 37683037	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33176848	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous xanthoma	Tuberous xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30563407	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40755754	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	BEFREE	11737215		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	20511491, 8006521		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	Pubtator	26861945, 31796091	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	10406988, 10519880, 10869358, 11181744, 11737215, 12270007, 12777473, 15576845, 17444890, 20558929, 20925952, 22018287, 22509407, 23001091, 25447658, 25941960, 26156051, 26622071, 26643207, 26861945, 27771677, 27879219, 29269672, 29434128, 31796091, 31990370, 32523054, 32581172, 33400472, 33891937, 33967188, 34066437, 35428606, 35614401, 36514115, 36650582, 37024986, 37083278, 37321343, 38216115, 40133480, 40297984, 7915755, 7977352, 8006521, 8014582, 8514861, 8728324, 8728327, 8827518, 8950197, 9186905, 9392430, 9548584	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	10406988, 10519880, 10775536, 10869358, 11181760, 11282095, 1130172, 11454857, 11737215, 12000359, 12555943, 1320501, 14741198, 15131757, 15576845, 15608974, 15795599, 16157755, 16372260, 16816916, 17319284, 17444890, 1817043, 19696711, 19801147, 2019602, 20402754, 20450308, 20511491, 20925952, 21073839, 21168372, 21645175, 21958693, 22018287, 22509407, 23759795, 24080357, 24096962, 25424010, 25941960, 26643207, 26861945, 26874936, 27225395, 27879219, 28168705, 28190002, 28229379, 28623566, 28894950, 28937538, 28980151, 29058268, 29260356, 29731275, 30017468, 30054180, 30471425, 31536098, 31706903, 31796091, 3223491, 6574616, 7847220, 7860076, 7915755, 7977352, 8006521, 8014582, 8514861, 8614539, 8728324, 8728327, 8730343, 8827518, 8931710, 8950197, 9008528, 9186905, 9254865, 9392430, 9521761, 9548584, 9748042, 9790667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	CLINVAR_DG	10406988, 10430841, 10775536, 11181744, 11737215, 11903362, 12000359, 12270007, 12555943, 14741198, 14999499, 16278884, 16816916, 17030721, 17319284, 17697869, 18227423, 2019602, 20402754, 20558929, 21073839, 21345536, 21404287, 21645175, 21764626, 21955034, 21958693, 22197981, 22336472, 22878431, 23212406, 23287330, 23659550, 24584636, 24627108, 24746394, 25112387, 25447658, 25525159, 25941960, 25983621, 26156051, 26206375, 26519892, 26861945, 26906304, 26937392, 27084087, 27225395, 27455001, 27678445, 27878435, 28623566, 28894950, 29242796, 29269672, 29321515, 7915755, 8006521, 8014582, 8514861, 8730343, 8827518, 8931710, 8950197, 9186905, 9392430, 9521761, 9790667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	LHGDN	11903362, 12242561, 12777473, 14741198, 16157755, 16372260, 18227423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	UNIPROT_DG	12000359, 2019602, 7915755, 9186905, 9790667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	CTD_human_DG	12117727, 15795599, 17444890, 19801147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	GENOMICS_ENGLAND_DG	16278884, 2019602, 22878431, 24357685, 24442603, 25655951, 27604308, 28623566, 29321515, 29484516, 7915755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations