CACNA1H (calcium voltage-gated channel subunit alpha1 H)

Gene

• Entrez ID: 8912
• Gene name: Calcium voltage-gated channel subunit alpha1 H
• Gene symbol: CACNA1H
• Synonyms (NCBI Gene): CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3751664	C>A,T	Benign, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs57315342	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs58173258	G>A	Risk-factor, benign	Non coding transcript variant, missense variant, coding sequence variant
rs60040113	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs60734921	C>T	Risk-factor, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs119454947	C>A,G,T	Risk-factor	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs119454948	G>A,T	Risk-factor	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs119454949	G>A	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs201651793	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201911360	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs267606697	G>A	Likely-benign, risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs368976749	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs370039255	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs373830807	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377112179	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs749735503	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs767983680	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs771718484	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs775271588	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs786205050	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518033	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793076	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs1437449624	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555510028	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT857734	hsa-miR-3140-5p	CLIP-seq
MIRT857735	hsa-miR-4680-3p	CLIP-seq
MIRT857736	hsa-miR-490-3p	CLIP-seq
MIRT857737	hsa-miR-649	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT1954704	hsa-miR-191	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT1954706	hsa-miR-4493	CLIP-seq
MIRT1954707	hsa-miR-4646-5p	CLIP-seq
MIRT1954708	hsa-miR-4747-3p	CLIP-seq
MIRT1954709	hsa-miR-4747-5p	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT2192272	hsa-miR-3179	CLIP-seq
MIRT2192273	hsa-miR-3202	CLIP-seq
MIRT2192274	hsa-miR-3652	CLIP-seq
MIRT2192275	hsa-miR-4430	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT2192276	hsa-miR-4505	CLIP-seq
MIRT2192277	hsa-miR-4533	CLIP-seq
MIRT2192278	hsa-miR-4638-5p	CLIP-seq
MIRT2192279	hsa-miR-4707-3p	CLIP-seq
MIRT2192280	hsa-miR-4793-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	22431737
REST	Unknown	22431737

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	IDA	27149520
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	9930755
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	24277868, 25907736, 27729216
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27149520
GO:0005886	Component	Plasma membrane	IDA	27149520
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	10861024
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	TAS	9670923
GO:0007517	Process	Muscle organ development	NAS	9670923
GO:0007520	Process	Myoblast fusion	TAS	10861024
GO:0008016	Process	Regulation of heart contraction	TAS	9670923
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008332	Function	Low voltage-gated calcium channel activity	IDA	21084288
GO:0008332	Function	Low voltage-gated calcium channel activity	TAS	10861024
GO:0016020	Component	Membrane	IDA	21084288
GO:0016020	Component	Membrane	IEA
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070509	Process	Calcium ion import	IDA	21084288
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	21084288
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	27149520
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:2000344	Process	Positive regulation of acrosome reaction	IMP	20394732

Other IDs

• MIM: 607904
• HGNC: 1395
• e!Ensembl: ENSG00000196557

Protein

• UniProt ID: O95180
• Protein name: Voltage-dependent T-type calcium channel subunit alpha-1H (Low-voltage-activated calcium channel alpha1 3.2 subunit) (Voltage-gated calcium channel subunit alpha Cav3.2)
• Protein function: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a vo
• PDB: 9AYG, 9AYH, 9AYJ, 9AYK, 9AYL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	99 → 430	Ion transport protein	Family
  PF00520	Ion_trans	792 → 1025	Ion transport protein	Family
  PF00520	Ion_trans	1293 → 1566	Ion transport protein	Family
  PF00520	Ion_trans	1616 → 1871	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216). In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, c
• Sequence:

  MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
  ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
  RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
  AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
  FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
  KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
  FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
  QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
  RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
  PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
  SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
  PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
  DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
  TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
  LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
  LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
  LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
  EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
  AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
  RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
  PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
  YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
  GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
  VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
  FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
  SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
  CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
  LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
  WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
  TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
  LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
  KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
  VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
  IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
  GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
  VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
  GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
  PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
  FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
  ATPAPGGGADDPV

• Sequence length: 2353

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
GnRH secretion
Cushing syndrome

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
Abnormal brain morphology	Likely pathogenic	rs775271588	RCV000454291	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperaldosteronism, familial, type IV	Pathogenic	rs786205050, rs2548707698	RCV000234982 RCV003810484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy	Pathogenic	rs2548707698	RCV003810484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary aldosteronism	Pathogenic	rs786205050	RCV000171134	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriovenous malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNA1H-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriovenous malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ABSENCE EPILEPSY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ABSENCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, childhood absence, susceptibility to, 6	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance; risk factor	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, idiopathic generalized, susceptibility to, 6	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERALDOSTERONISM TYPE IV	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand tremor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased circulating aldosterone concentration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Absence Seizure Disorder	Absence Seizure	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	26445452		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	27258646		★☆☆☆☆ Found in Text Mining only
Akinetic Petit Mal	Akinetic Petit Mal	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27331657		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27331657	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	31070086		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	15888660	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	31070086	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	16754686, 35668055	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	16754686, 19903827		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	16754686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	29533680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	33863995, 34368859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	CTD_human_DG	31542421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	16475676, 31129098		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16475676, 33597614, 34600547, 40644891	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27602771	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	21309755	Associate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	33478561	Associate	★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	27729216		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	25907736, 26445452, 26992195, 27258646, 27729216, 31706065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Syndrome	Conn Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cooley`s anemia	Cooley`s Anemia	CTD_human_DG	31542421		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27729216	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30543678	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19005641, 36347081	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	31070086	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33478561	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	33478561, 34544471	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24277868, 29533680, 30686625		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31651342, 33863995, 34098317, 37735453	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	15888660, 16504478, 28165634	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	29924869, 31651342	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Absence, Atypical	Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	ORPHANET_DG	12891677		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	CLINGEN_DG	10648900, 15852375, 17696120, 19144837, 29468672, 9930755		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	16565161, 17696120, 19903827, 29948376, 30686625, 31651342		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17696120		★☆☆☆☆ Found in Text Mining only
Epilepsy, Minor	Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34399820	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hyperaldosteronism	Hyperaldosteronism	Pubtator	27729216	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	28655554	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37735453	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	37735453	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	CTD_human_DG	31542421		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	27258646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	27729216, 31983310, 35757409, 40302475	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	UNIPROT_DG	25907736, 27729216		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	GENOMICS_ENGLAND_DG	27729216		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperglycemia	Hyperglycemia	Pubtator	28081948	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	40302475	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19609347, 25907736	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25907736, 26445452, 27258646		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	15852375, 24277868		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infertility Male	Male infertility	Pubtator	34604380	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	34979672	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	27258646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16475676, 31129098		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31129098, 31160272		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16475676		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35243582	Stimulate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	36786913	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28501589		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31070086	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	29581247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	30552955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18230611		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28081948	Associate	★☆☆☆☆ Found in Text Mining only
Punding	Punding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26462458, 29032150, 33863995	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28165634, 31651342	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	34979672	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	CTD_human_DG	31542421		★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	CTD_human_DG	31542421		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	36397158	Associate	★☆☆☆☆ Found in Text Mining only