ADCY5 (adenylate cyclase 5)

Gene

• Entrez ID: 111
• Gene name: Adenylate cyclase 5
• Gene symbol: ADCY5
• Synonyms (NCBI Gene): AC5, DSKOD, FDFM
• Chromosome: 3
• Chromosome location: 3q21.1
• Summary: This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha sub

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61734561	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs548282891	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs746547282	C>T	Likely-pathogenic	Splice donor variant
rs757156390	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs765349480	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796065306	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045002	C>A,T	Pathogenic	Splice donor variant
rs864309483	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs864309484	A>T	Pathogenic	Missense variant, coding sequence variant
rs864309515	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs910314734	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520218	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308027	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1215504032	AGCCGCCGCCGCCG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1553718964	G>T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1553726054	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553732126	->G	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553751151	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1553751262	GCCGAGCCGCCGCCGCCGCC>-,GCC	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1576526285	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606182	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606282	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1576704514	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT720875	hsa-miR-4753-5p	HITS-CLIP	19536157
MIRT720874	hsa-miR-4717-5p	HITS-CLIP	19536157
MIRT720873	hsa-miR-3922-5p	HITS-CLIP	19536157
MIRT720872	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT720871	hsa-miR-4287	HITS-CLIP	19536157
MIRT720870	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT720869	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT720868	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT720867	hsa-miR-718	HITS-CLIP	19536157
MIRT720866	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT720875	hsa-miR-4753-5p	HITS-CLIP	19536157
MIRT720874	hsa-miR-4717-5p	HITS-CLIP	19536157
MIRT720873	hsa-miR-3922-5p	HITS-CLIP	19536157
MIRT720872	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT720871	hsa-miR-4287	HITS-CLIP	19536157
MIRT720870	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT720869	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT720868	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT720867	hsa-miR-718	HITS-CLIP	19536157
MIRT720866	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT768008	hsa-miR-4455	CLIP-seq
MIRT768009	hsa-miR-510	CLIP-seq
MIRT768010	hsa-miR-512-5p	CLIP-seq
MIRT768011	hsa-miR-603	CLIP-seq
MIRT768012	hsa-miR-633	CLIP-seq
MIRT768013	hsa-miR-1263	CLIP-seq
MIRT768014	hsa-miR-1271	CLIP-seq
MIRT768015	hsa-miR-182	CLIP-seq
MIRT768016	hsa-miR-2392	CLIP-seq
MIRT768017	hsa-miR-298	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT768019	hsa-miR-3194-3p	CLIP-seq
MIRT768020	hsa-miR-3200-3p	CLIP-seq
MIRT768021	hsa-miR-323-5p	CLIP-seq
MIRT768022	hsa-miR-3978	CLIP-seq
MIRT768023	hsa-miR-4299	CLIP-seq
MIRT768024	hsa-miR-4436b-5p	CLIP-seq
MIRT768025	hsa-miR-4452	CLIP-seq
MIRT768026	hsa-miR-4456	CLIP-seq
MIRT768027	hsa-miR-4521	CLIP-seq
MIRT768028	hsa-miR-4534	CLIP-seq
MIRT768029	hsa-miR-4642	CLIP-seq
MIRT768030	hsa-miR-4680-3p	CLIP-seq
MIRT768031	hsa-miR-4778-5p	CLIP-seq
MIRT768032	hsa-miR-548q	CLIP-seq
MIRT768033	hsa-miR-876-3p	CLIP-seq
MIRT768034	hsa-miR-888	CLIP-seq
MIRT768035	hsa-miR-96	CLIP-seq
MIRT1926528	hsa-miR-1226	CLIP-seq
MIRT1926529	hsa-miR-3692	CLIP-seq
MIRT1926530	hsa-miR-4443	CLIP-seq
MIRT2443219	hsa-miR-1913	CLIP-seq
MIRT2443220	hsa-miR-214	CLIP-seq
MIRT2443221	hsa-miR-216a	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT2443222	hsa-miR-3152-5p	CLIP-seq
MIRT2443223	hsa-miR-3173-5p	CLIP-seq
MIRT2443224	hsa-miR-324-3p	CLIP-seq
MIRT2443225	hsa-miR-3619-5p	CLIP-seq
MIRT2443226	hsa-miR-3691-3p	CLIP-seq
MIRT2443227	hsa-miR-3909	CLIP-seq
MIRT2443228	hsa-miR-4291	CLIP-seq
MIRT2443229	hsa-miR-4307	CLIP-seq
MIRT2443230	hsa-miR-4313	CLIP-seq
MIRT2443231	hsa-miR-4655-3p	CLIP-seq
MIRT2443232	hsa-miR-4734	CLIP-seq
MIRT2443233	hsa-miR-503	CLIP-seq
MIRT2443234	hsa-miR-567	CLIP-seq
MIRT2443235	hsa-miR-761	CLIP-seq
MIRT2443236	hsa-miR-922	CLIP-seq
MIRT2443220	hsa-miR-214	CLIP-seq
MIRT2443221	hsa-miR-216a	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT2443225	hsa-miR-3619-5p	CLIP-seq
MIRT2443226	hsa-miR-3691-3p	CLIP-seq
MIRT2443228	hsa-miR-4291	CLIP-seq
MIRT2443233	hsa-miR-503	CLIP-seq
MIRT2443235	hsa-miR-761	CLIP-seq
MIRT2443236	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0004016	Function	Adenylate cyclase activity	IBA
GO:0004016	Function	Adenylate cyclase activity	IDA	15385642, 24700542
GO:0004016	Function	Adenylate cyclase activity	IEA
GO:0004016	Function	Adenylate cyclase activity	IMP	24740569
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA
GO:0006171	Process	CAMP biosynthetic process	IDA	15385642, 24700542
GO:0006171	Process	CAMP biosynthetic process	IEA
GO:0006171	Process	CAMP biosynthetic process	IMP	24740569
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	24700542
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IMP	24740569
GO:0007626	Process	Locomotory behavior	IEA
GO:0008179	Function	Adenylate cyclase binding	IEA
GO:0008179	Function	Adenylate cyclase binding	ISS
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0016020	Component	Membrane	IDA	15385642
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	24740569
GO:0097110	Function	Scaffold protein binding	IEA
GO:1904322	Process	Cellular response to forskolin	IDA	15385642, 24700542

Other IDs

• MIM: 600293
• HGNC: 236
• e!Ensembl: ENSG00000173175

Protein

• UniProt ID: O95622
• Protein name: Adenylate cyclase type 5 (EC 4.6.1.1) (ATP pyrophosphate-lyase 5) (Adenylate cyclase type V) (Adenylyl cyclase 5) (AC5)
• Protein function: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:24700542, PubMed:26206488). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(
• PDB: 8SL3, 8SL4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16214	AC_N	1 → 458	Adenylyl cyclase N-terminal extracellular and transmembrane region	Family
  PF00211	Guanylate_cyc	460 → 642	Adenylate and Guanylate cyclase catalytic domain	Domain
  PF06327	DUF1053	668 → 761	Domain of Unknown Function (DUF1053)	Family
  PF00211	Guanylate_cyc	1062 → 1256	Adenylate and Guanylate cyclase catalytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in pancreas islets (at protein level). Expressed in the brain, with high expression in the corpus striatum (PubMed:26085604). {ECO:0000269|PubMed:24740569, ECO:0000269|PubMed:26085604}.
• Sequence:

  MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGA
  VTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRR
  GAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEG
  GEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQS
  SLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGL
  ACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSAL
  HLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLH
  SQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTS
  LASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEM
  GMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGK
  AGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMN
  RQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFL
  GRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQI
  TIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVF
  TITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSP
  WPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADL
  LVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKL
  QATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANF
  SEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTY
  DKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWG
  NTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPL
  S

• Sequence length: 1261

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
ADCY5-related disorder	Likely pathogenic	rs1553751019	RCV003387603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinesia with orofacial involvement, autosomal dominant	Pathogenic; Likely pathogenic	rs2108372267, rs1007363034, rs2107658582, rs1576526285, rs1941427629, rs1553724606, rs864309484, rs796065306, rs864309483, rs2472988765, rs1553718863, rs797045002, rs864309515, rs910314734, rs1576704514, rs1553726054, rs1576606182, rs1576606282	RCV001548757 RCV001789712 RCV001789713 RCV002248962 RCV002248963 RCV002249230 RCV000202493 RCV000030679 RCV000202545 RCV002466312 RCV002468889 RCV000190498 RCV000202586 RCV000202572 RCV000987316 RCV000987319 RCV000987320 RCV000995686 RCV000995687 RCV000995688	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskinesia with orofacial involvement, autosomal recessive	Likely pathogenic; Pathogenic	rs2108390731, rs1365372289, rs1553751262	RCV001789714 RCV001789708 RCV001789709	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs864309515	RCV002273986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Pathogenic; Likely pathogenic	rs2108148749, rs2108384208, rs756172692, rs1553751262	RCV001789715 RCV001789716 RCV004596501 RCV004596385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN HEREDITARY CHOREA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREATIC DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy with posterior leg and anterior hand involvement	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSKINESIA WITH OROFACIAL INVOLVEMENT	—	ClinGen, Disgenet, GenCC ClinGen, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Morphological central nervous system abnormality	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	27931826		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	27061943	Associate	★☆☆☆☆ Found in Text Mining only
Athetoid cerebral palsy	Athetoid cerebral palsy	BEFREE	28511835		★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	26085604, 27061943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Hereditary Chorea	Benign Hereditary Chorea	ORPHANET_DG	26085604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign hereditary chorea	Benign Hereditary Chorea	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35697697	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36705562	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	35697697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	18029912, 23536361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	18029912, 23536361		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27427220	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	28511835, 32647899	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30799092		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	26085604, 26537056, 27061943, 28511835, 36054588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea, Benign Familial	Chorea	ORPHANET_DG	26085604		★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	27061943	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	25193472		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35545337	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19846118, 23278386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23278386, 30172639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	23202124, 31162142, 31758873		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23202124, 31162142, 31758873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	25375650, 34801028	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20081857, 20081858, 20490451, 21712988, 21949744, 23193118, 23202124, 23462794, 24740569, 26168825, 27896934, 28684635, 29412141, 30089489, 31123324, 32163478	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27896934, 30089489	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20081857, 20372150, 20490451, 21712988, 21949744, 22406741, 22956255, 23202124, 24740569, 25793868, 26168825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	20081858, 23202124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22693455, 22885922, 24509480, 28869590, 30054458, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22693455, 22885922, 24509480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysarthria	Dysarthria	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	22782511, 24700542	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	GENOMICS_ENGLAND_DG	11310626, 24700542, 28511835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	CLINVAR_DG	11310626, 22782511, 24700542, 25545163, 26537056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	BEFREE	22782511, 27061943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	UNIPROT_DG	22782511, 24700542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	ORPHANET_DG	22782511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinesia, Familial, with Facial Myokymia	Dyskinesia, With Facial Myokymia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	24700542, 26085604, 26537056, 27061943, 28229249, 29086067, 29680308, 30772269		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10051231, 12223546, 12503609, 12665504, 1618857, 22539851, 22782511, 23449625, 24700542, 25193033, 25379658, 25790160, 26085604, 26537056, 26686870, 27052971, 27061943, 28229249, 28511835, 8415621, 8429907, 8511718		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	26085604, 26537056, 27061943, 28511835, 31731261, 35041927	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	25545163, 27052971, 27061943, 28511835		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	26537056	Associate	★☆☆☆☆ Found in Text Mining only
Familial dyskinesia and facial myokymia	Dyskinesia And Facial Myokymia	Orphanet			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28511835	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25793868, 31162142, 31758873		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	33513366	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	26537056, 28511835, 32647899, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	12717102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	36233117	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	22956255		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	24793904	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	24793904		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38188159	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21789219, 32163478	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27061943	Associate	★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28346420		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19846118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	19846118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19846118, 23278386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23278386, 30172639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28919193		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	28255005		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10051231, 12223546, 12503609, 12665504, 1618857, 22539851, 22782511, 23449625, 24700542, 25193033, 25379658, 25790160, 26085604, 26537056, 26686870, 27052971, 27061943, 28229249, 28511835, 8415621, 8429907, 8511718		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	22782511, 24700542, 25545163, 27052971, 28511835, 30975617, 31353980		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	22782511, 24700542, 28511835, 32647899	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	18029912, 23536361		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	28229249		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	28229249	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28511835		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30172639		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21789219, 25793868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21789219	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomotor apraxia	Oculomotor apraxia	BEFREE	29680308		★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	BEFREE	29680308		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18029912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18029912		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18029912		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	22952279	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	27826057		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18029912		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23193118	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30172639		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19846118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	19846118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations