CP (ceruloplasmin)

Gene

• Entrez ID: 1356
• Gene name: Ceruloplasmin
• Gene symbol: CP
• Synonyms (NCBI Gene): AB073614, CP-2
• Chromosome: 3
• Chromosome location: 3q24-q25.1
• Summary: The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34386552	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs34394958	A>C,G	Benign-likely-benign, likely-benign, pathogenic, benign	Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs34987997	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs56033670	G>C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, coding sequence variant, missense variant
rs121909579	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs139633388	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs151304828	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs200683433	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs369900671	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386134121	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134122	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134123	A>C,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134124	G>A,C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134125	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134126	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134127	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134128	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134129	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs386134130	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134131	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134132	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134133	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386134134	C>A,T	Pathogenic	Splice donor variant
rs386134135	C>T	Pathogenic	Splice acceptor variant
rs386134136	C>T	Pathogenic	Splice donor variant
rs386134137	T>C	Pathogenic	Splice acceptor variant
rs386134138	->AC	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant
rs386134139	C>T	Pathogenic	Splice acceptor variant, intron variant
rs386134140	C>A	Pathogenic	Splice donor variant
rs386134141	C>A,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs386134142	C>T	Pathogenic	Splice acceptor variant, intron variant
rs386134143	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134144	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134145	->GTGTA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134146	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs386134147	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs386134148	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs386134149	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134150	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134151	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134152	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134153	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134154	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs386134155	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs386134156	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs529607771	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs587777922	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs750451693	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs753254095	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs767161351	G>A,C,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769313989	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs776936158	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1057518247	T>C	Pathogenic	Splice acceptor variant
rs1064797073	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401784	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553759167	TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA>-	Pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1553759338	GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGA	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, splice acceptor variant, coding sequence variant
rs1553761391	->AC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553762556	C>T	Pathogenic	Splice donor variant
rs1553765380	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559935542	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559940237	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1576759850	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735517	hsa-miR-145-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR	32708433
MIRT905614	hsa-miR-23a	CLIP-seq
MIRT905615	hsa-miR-23b	CLIP-seq
MIRT905616	hsa-miR-23c	CLIP-seq
MIRT1968537	hsa-miR-409-3p	CLIP-seq
MIRT1968538	hsa-miR-4659a-3p	CLIP-seq
MIRT1968539	hsa-miR-4659b-3p	CLIP-seq
MIRT1968540	hsa-miR-4778-3p	CLIP-seq
MIRT2204401	hsa-miR-1285	CLIP-seq
MIRT2204402	hsa-miR-129-5p	CLIP-seq
MIRT2204403	hsa-miR-1323	CLIP-seq
MIRT2204404	hsa-miR-145	CLIP-seq
MIRT2204405	hsa-miR-3127-5p	CLIP-seq
MIRT2204406	hsa-miR-3187-5p	CLIP-seq
MIRT2204407	hsa-miR-375	CLIP-seq
MIRT2204408	hsa-miR-4261	CLIP-seq
MIRT2204409	hsa-miR-4326	CLIP-seq
MIRT2204410	hsa-miR-4477b	CLIP-seq
MIRT2204411	hsa-miR-4496	CLIP-seq
MIRT2204412	hsa-miR-4505	CLIP-seq
MIRT2204413	hsa-miR-4719	CLIP-seq
MIRT2204414	hsa-miR-4733-5p	CLIP-seq
MIRT2204415	hsa-miR-513b	CLIP-seq
MIRT2204416	hsa-miR-548o	CLIP-seq
MIRT2204417	hsa-miR-578	CLIP-seq
MIRT2204418	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IDA	14623105
GO:0004322	Function	Ferroxidase activity	IEA
GO:0004322	Function	Ferroxidase activity	IMP	16150804, 29183916
GO:0004322	Function	Ferroxidase activity	TAS	7708681
GO:0004602	Function	Glutathione peroxidase activity	IDA	10481051, 10508415
GO:0004602	Function	Glutathione peroxidase activity	IEA
GO:0005507	Function	Copper ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IDA	16150804, 19996109
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	7708681
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006878	Process	Intracellular copper ion homeostasis	IDA	14623105
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	14623105
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	16150804, 29183916
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	9445478
GO:0016491	Function	Oxidoreductase activity	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016722	Function	Oxidoreductase activity, acting on metal ions	IEA
GO:0016724	Function	Oxidoreductase activity, acting on metal ions, oxygen as acceptor	IDA	14623105
GO:0046872	Function	Metal ion binding	IEA
GO:0047066	Function	Phospholipid-hydroperoxide glutathione peroxidase activity	IDA	10481051, 10508415
GO:0051087	Function	Protein-folding chaperone binding	IPI	19996109
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 117700
• HGNC: 2295
• e!Ensembl: ENSG00000047457

Protein

• UniProt ID: P00450
• Protein name: Ceruloplasmin (Cuproxidase ceruloplasmin) (EC 1.16.3.4) (Ferroxidase ceruloplasmin) (EC 1.16.3.1) (Glutathione peroxidase ceruloplasmin) (EC 1.11.1.9) (Glutathione-dependent peroxiredoxin ceruloplasmin) (EC 1.11.1.27)
• Protein function: Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane (PubMed:161508
• PDB: 1KCW, 2J5W, 4EJX, 4ENZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07732	Cu-oxidase_3	74 → 204	Multicopper oxidase	Domain
  PF00394	Cu-oxidase	221 → 358	Multicopper oxidase	Domain
  PF07732	Cu-oxidase_3	801 → 903	Multicopper oxidase	Domain
  PF07731	Cu-oxidase_2	937 → 1060	Multicopper oxidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000305|PubMed:12055353}.
• Sequence:

  MKILILGIFLFLCSTPAWAKEKHYYIGIIETTWDYASDHGEKKLISVDTEHSNIYLQNGP
  DRIGRLYKKALYLQYTDETFRTTIEKPVWLGFLGPIIKAETGDKVYVHLKNLASRPYTFH
  SHGITYYKEHEGAIYPDNTTDFQRADDKVYPGEQYTYMLLATEEQSPGEGDGNCVTRIYH
  SHIDAPKDIASGLIGPLIICKKDSLDKEKEKHIDREFVVMFSVVDENFSWYLEDNIKTYC
  SEPEKVDKDNEDFQESNRMYSVNGYTFGSLPGLSMCAEDRVKWYLFGMGNEVDVHAAFFH
  GQALTNKNYRIDTINLFPATLFDAYMVAQNPGEWMLSCQNLNHLKAGLQAFFQVQECNKS
  SSKDNIRGKHVRHYYIAAEEIIWNYAPSGIDIFTKENLTAPGSDSAVFFEQGTTRIGGSY
  KKLVYREYTDASFTNRKERGPEEEHLGILGPVIWAEVGDTIRVTFHNKGAYPLSIEPIGV
  RFNKNNEGTYYSPNYNPQSRSVPPSASHVAPTETFTYEWTVPKEVGPTNADPVCLAKMYY
  SAVDPTKDIFTGLIGPMKICKKGSLHANGRQKDVDKEFYLFPTVFDENESLLLEDNIRMF
  TTAPDQVDKEDEDFQESNKMHSMNGFMYGNQPGLTMCKGDSVVWYLFSAGNEADVHGIYF
  SGNTYLWRGERRDTANLFPQTSLTLHMWPDTEGTFNVECLTTDHYTGGMKQKYTVNQCRR
  QSEDSTFYLGERTYYIAAVEVEWDYSPQREWEKELHHLQEQNVSNAFLDKGEFYIGSKYK
  KVVYRQYTDSTFRVPVERKAEEEHLGILGPQLHADVGDKVKIIFKNMATRPYSIHAHGVQ
  TESSTVTPTLPGETLTYVWKIPERSGAGTEDSACIPWAYYSTVDQVKDLYSGLIGPLIVC
  RRPYLKVFNPRRKLEFALLFLVFDENESWYLDDNIKTYSDHPEKVNKDDEEFIESNKMHA
  INGRMFGNLQGLTMHVGDEVNWYLMGMGNEIDLHTVHFHGHSFQYKHRGVYSSDVFDIFP
  GTYQTLEMFPRTPGIWLLHCHVTDHIHAGMETTYTVLQNEDTKSG

• Sequence length: 1065

Pathways

KEGG:

Porphyrin metabolism
Ferroptosis

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Metal ion SLC transporters
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
Defective CP causes aceruloplasminemia (ACERULOP)
Post-translational protein phosphorylation
Iron uptake and transport

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
CP-related disorder	Likely pathogenic; Pathogenic	rs1361931808, rs1257565717, rs2472840199, rs762368526, rs386134147	RCV003399562 RCV003402142 RCV003405876 RCV004747403 RCV003894849	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of ferroxidase	Pathogenic; Likely pathogenic	rs1727369694, rs2108301637, rs1406530488, rs587780321, rs2108244261, rs772867888, rs2108230432, rs779026502, rs2472773829, rs1257565717, rs2472761454, rs2472840538, rs2472762265, rs752232577, rs762368526, rs768510247, rs386134142, rs386134149, rs386134145, rs121909579, rs386134143, rs776936158, rs753254095, rs386134141, rs1135401784, rs1553759167, rs1553759338, rs1553762556, rs769313989, rs750451693, rs386134127, rs386134125, rs386134129, rs386134131, rs386134132, rs386134124, rs386134122, rs386134130, rs386134155, rs386134156, rs386134126, rs386134137, rs386134138, rs386134144, rs386134134, rs386134139, rs386134146, rs386134147, rs386134148, rs587777922, rs386134150, rs386134151, rs386134140, rs386134152, rs386134153, rs386134154, rs386134135, rs386134136, rs1553761391, rs1559935542, rs1559940237, rs369900671, rs1576759850, rs1043139127	RCV001383313 RCV001383523 RCV001780576 RCV005031613 RCV002007364 RCV001994711 RCV001914980 RCV002664323 RCV002770194 RCV003778218 RCV003631901 RCV003632234 RCV003632766 RCV003632931 RCV003877644 RCV003985033 RCV000019114 RCV000019116 RCV000019118 RCV000019120 RCV000019122 RCV000504529 RCV001856906 RCV000496109 RCV000496150 RCV000584745 RCV000584751 RCV000584747 RCV000584748 RCV000809524 RCV000034876 RCV000034879 RCV000034880 RCV000034881 RCV000034888 RCV000034946 RCV000034947 RCV000034948 RCV000034949 RCV000034951 RCV000034953 RCV000034957 RCV000034958 RCV000034960 RCV000034962 RCV000034966 RCV000034968 RCV000034970 RCV000034971 RCV000034974 RCV000034977 RCV000034978 RCV000034979 RCV000034980 RCV000034981 RCV000034982 RCV000034983 RCV000034995 RCV000035000 RCV000638592 RCV000707198 RCV000697053 RCV000799580 RCV000801055 RCV001224634	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with brain iron accumulation	Likely pathogenic; Pathogenic	rs587780321, rs776936158, rs1135401784, rs750451693, rs386134127, rs386134147	RCV004586553 RCV005055965 RCV003226310 RCV005431812 RCV005237457 RCV002509184	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACERULOPLASMINEMIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ 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
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF IRON METABOLISM AND TRANSPORT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINETIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APOCERULOPLASMIN DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOSIDEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoceruloplasminemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aceruloplasminemia	Aceruloplasminemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	22075249		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	27272717		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29572010		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	31442954		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16639025, 20206286, 21051716, 28057442		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31442954		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	30618523		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	30618523		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11283204, 16272261, 20796026, 24366863, 32087292	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18307039		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29906423		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10777486, 11005792, 12200392, 14724150, 15528156, 29960117, 30901137		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	12200392, 32235485	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	15082597, 32264837	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	15528156, 16549536, 20417464		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	18388036		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	30700131		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31442954		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23861484, 27040361, 28427851, 30803124		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23861484, 27040361, 28427851, 30803124		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24118451, 28427851		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	24118451, 28427851	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12363196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15363659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ballismus	Ballismus	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	17334044	Inhibit	★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	28423673		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	28423673	Associate	★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	BEFREE	3574673		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22739732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28819251, 28849262, 3586857		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21871081, 26446998	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34413268, 34477121	Inhibit	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	20012460		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	11044091, 21865378, 7856099, 9261362, 9454768	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	19423691, 19821764	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12079511, 19307463, 24799124, 25609232, 25789864, 28561948	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30405827		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26850699	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11720477, 25168455, 31431624, 34449964, 36973268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19695674	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31668012		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	32087292	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15668644		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19648144, 23861484, 27083758, 29895294, 30487467		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23861484	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30670944		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29899723		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	BEFREE	11689569, 11909923, 12044538, 12572680, 14719552, 15082597, 16629161, 16775387, 16831606, 16906150, 17637479, 19095659, 20655381, 20801540, 21496576, 22243965, 22515740, 25247888, 27272717, 27817091, 29183916, 30568573, 30895493, 30901137, 31024241, 31560858, 3574673, 7539672, 7708681, 8526944, 8968753, 9559983, 9587138		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	CLINVAR_DG	11909923, 12351628, 15082597, 16629161, 16831606, 19095659, 25864092, 26777753, 28012953		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	CTD_human_DG	12572680, 20801540, 22243965		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	GENOMICS_ENGLAND_DG	15338274, 27604308, 3574673		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28423673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	19695674		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30955187		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30405827		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	29377571	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23812204, 32087292	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23792645, 27353863		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12708132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	23792645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	34564978	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15682479	Associate	★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement Component Deficiency	BEFREE	886187		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29901643, 31076363		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23861484, 29459363		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31431624		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22075249		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22075249		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22075249		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25250685	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33927050	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	4308098	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	CTD_human_DG	12572680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	25490030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32427278	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12730458, 27272717, 8789443		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	12572680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12730458, 17013908, 27272717, 7539672, 8526944, 8789443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	LHGDN	17013908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	34669152, 34670377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	12879954	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29079528	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	20012460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27815605, 31472477, 8789443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	20012460		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29079528, 29355933		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	20012460		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	20012460		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30955187		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21360684		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22678011	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	29234088		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	29234088	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	11723201, 29331561, 8789443		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	27013236	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CTD_human_DG	12572680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	19005224		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	7914452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	7539672		★☆☆☆☆ Found in Text Mining only
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	Pubtator	11929178, 12200392, 12879954, 1544429, 20655381, 20801540, 21720062, 22084216, 22243965, 23812204, 24607334, 25168455, 27175663, 29434149, 29709961, 34014900, 34360993, 34670377, 35868289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	Pubtator	12200392, 20686294, 32235485, 8894739	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	CTD_human_DG	12572680, 20801540, 22243965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Dementia	Dementia	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31076363		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	32935743	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	25226513, 26396155		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30955187		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29843237		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15111596, 17251471		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	16862071	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11681312		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35918659	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11681312		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18952589, 19095659		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18952589		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27306358		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28450461		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	32427278	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	20206286		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	23505556	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38130930	Associate	★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	31125343		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33836056	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24311705	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23861484, 29459363		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23861484, 24311705	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	29886772		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	29434149	Associate	★☆☆☆☆ Found in Text Mining only
Hemiballismus	Hemiballismus	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	11783942, 16831606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	LHGDN	11783942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG	17258727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	11783942, 16831606, 21979376		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	15327386	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	10886198, 9292523	Associate	★☆☆☆☆ Found in Text Mining only
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA	SYSTEMIC HEMOSIDEROSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	22243965, 23519153, 7849148		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	35137191	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25789864	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	20417464	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10070620, 10749290, 10942420, 11076401, 15205951, 15511628, 15560044, 16549536, 16610028, 16644258, 17182432, 17325640, 17587212, 18424137, 18556333, 19007772, 19067230, 19572946, 20082719, 20417464, 20739809, 20818742, 22269206, 2382969, 27935710, 28433109, 28922444, 29173477, 29324775, 29375214, 29644160, 29649982, 29882374, 29958879, 29979436, 30356741, 30980273, 31179307, 31421978, 31547461, 31653639, 31815268, 3654978, 7498669, 7552582, 7708681, 7708696, 8100247, 8780087, 9288611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	1544429, 20082719, 20417464, 20739809, 22243965, 22688476, 28922444, 29979436, 30936772, 31547461, 31804371, 32264837, 34470610, 35296237, 35388883, 39178787, 4308098, 9311736	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	18809982, 29649982, 3654978	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	22243965, 23519153, 7849148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	11472372, 11804665		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	17258727		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	21315066		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	9261362	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	14598080		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	18307039		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	31653639		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	20206286		★☆☆☆☆ Found in Text Mining only
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	BEFREE	15842597		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	19648144		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31119639		★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	18568852, 22243965, 28118841, 28951428, 29546308, 30936772, 9396570		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	29958879		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29958879		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19656030	Stimulate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21595033		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28554217		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35029158, 36155972	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	21915437	Associate	★☆☆☆☆ Found in Text Mining only
Iron Metabolism Disorders	Iron Metabolism Disorders	BEFREE	12572680, 14719552, 9587138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Metabolism Disorders	Iron Metabolism Disorders	CTD_human_DG	16988052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	BEFREE	10777486, 11076887, 12044538, 12200392, 15842597, 16831606, 17307325, 17710675, 19019832, 20211720, 28233916, 31560858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	11472372	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	12200392, 15082597, 22084216, 34048062, 35868289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	CTD_human_DG	20801540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron-Refractory Iron Deficiency Anemia	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kayser-Fleischer ring	Kayser-Fleischer ring	BEFREE	17382611, 19172127, 21682854, 23043908, 28433100, 29375214, 29649982, 30936772, 31113589, 9207280, 9311736		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12432434, 30955187		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25224196	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	34449964	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20670477	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20670477		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28513913		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10777486		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	19229483		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	25226513, 26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	28922444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29427759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	34470610	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	24476933		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	31568522	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32708433	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30170966	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28124217		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	27590021, 28361601, 28620062, 30348048, 30391651, 30525646, 30955187		★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	16639025		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	18952589		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28819251, 28849262, 3586857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21901748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30405827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28513913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31668012		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24676332, 26686630, 29572010, 3586857		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	23792645		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27353863		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10777486		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	23792645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35232428	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30955187		★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	22243965, 7195507, 9396570		★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	CTD_human_DG	22243965		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31779002		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	38013118	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25758665	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11733106, 27083758, 29037330		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	BEFREE	15528156		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25490030, 28076308, 30618716		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29611101		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	30987719	Stimulate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	14719552, 16629161, 18200628, 25089372		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	17013908, 30901137, 7708681		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23762311	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23868451, 28477683, 29524632, 30804745		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	29434149	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22075249		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	16537992	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22590638, 32541515	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14996741, 23792645, 26686630, 27353863		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	25224196	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	14723607, 27272717, 27499330		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	28397206	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20629144, 25870938		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24366863, 34360993, 35868289	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15105274, 16150804, 19019832, 19095659, 24366863, 28029772, 29737252, 30640257, 8789443		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	22269206		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18505688		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17016581		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24676332, 31496908		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24676332, 32264837	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28883787		★☆☆☆☆ Found in Text Mining only
Oral Dyskinesia	Oral Dyskinesia	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	19884712	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	29976663	Associate	★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	27387094		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	14996741, 31668012		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21923952, 38186569, 39337685	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35954297	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36812168	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	29434149	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15105274, 15557511, 16150804, 16464747, 16755382, 22288465, 25218846, 25758665, 28632695, 28874056, 29203265, 29733522, 30243884, 31733982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15557511, 16150804, 18307039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	19159062, 25758665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	25758665, 25943368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25943368	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	33836056	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29850212		★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	11254675	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25490030		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	CTD_human_DG	12559600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	12559600		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31431624		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	32264837	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	7459314		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12175089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	26001728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30002993, 30021375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	16842975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Paranoid Dementia	Senile Paranoid Dementia	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31568522	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28167245		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	32264837	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12386823		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31076363		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	21595033		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	22139323	Associate	★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	12572680		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27769988		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	21474797	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	30206455		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23925487	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	33836056	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	12432434		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	30803124	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin K Deficiency	Vitamin k deficiency	Pubtator	39178787	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	12390184		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	12390184		★☆☆☆☆ Found in Text Mining only