CACNA1G (calcium voltage-gated channel subunit alpha1 G)

Gene

• Entrez ID: 8913
• Gene name: Calcium voltage-gated channel subunit alpha1 G
• Gene symbol: CACNA1G
• Synonyms (NCBI Gene): Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882202	TTC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs755221106	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs772685782	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886039324	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041505	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795668	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555558553	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1555638141	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1598588782	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT639508	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT639507	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT639506	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639505	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639504	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT639508	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT639507	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT639506	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639505	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639504	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT857729	hsa-miR-507	CLIP-seq
MIRT857730	hsa-miR-541	CLIP-seq
MIRT857731	hsa-miR-557	CLIP-seq
MIRT857732	hsa-miR-615-5p	CLIP-seq
MIRT857733	hsa-miR-654-5p	CLIP-seq
MIRT2436033	hsa-miR-3688-3p	CLIP-seq
MIRT2436034	hsa-miR-4796-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	10648811, 10692398
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	29878067
GO:0005262	Function	Calcium channel activity	IEA
GO:0005737	Component	Cytoplasm	IDA	26715324
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	26715324
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	ISS
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	9495342
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008332	Function	Low voltage-gated calcium channel activity	IDA	21084288, 26456284, 26715324
GO:0008332	Function	Low voltage-gated calcium channel activity	IEA
GO:0010045	Process	Response to nickel cation	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070509	Process	Calcium ion import	IDA	21084288
GO:0070509	Process	Calcium ion import	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	26456284, 26715324
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	ISS
GO:0086015	Process	SA node cell action potential	ISS
GO:0086016	Process	AV node cell action potential	ISS
GO:0086018	Process	SA node cell to atrial cardiac muscle cell signaling	ISS
GO:0086027	Process	AV node cell to bundle of His cell signaling	ISS
GO:0086045	Process	Membrane depolarization during AV node cell action potential	ISS
GO:0086046	Process	Membrane depolarization during SA node cell action potential	ISS
GO:0086056	Function	Voltage-gated calcium channel activity involved in AV node cell action potential	ISS
GO:0086059	Function	Voltage-gated calcium channel activity involved SA node cell action potential	ISS
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	21084288
GO:0098703	Process	Calcium ion import across plasma membrane	IBA

Other IDs

• MIM: 604065
• HGNC: 1394
• e!Ensembl: ENSG00000006283

Protein

• UniProt ID: O43497
• Protein name: Voltage-dependent T-type calcium channel subunit alpha-1G (Cav3.1c) (NBR13) (Voltage-gated calcium channel subunit alpha Cav3.1)
• Protein function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio
• PDB: 6KZO, 6KZP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	80 → 406	Ion transport protein	Family
  PF00520	Ion_trans	742 → 975	Ion transport protein	Family
  PF00520	Ion_trans	1275 → 1548	Ion transport protein	Family
  PF00520	Ion_trans	1610 → 1862	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral ce
• Sequence:

  MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVV
  FFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAF
  DDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVR
  TVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR
  CFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGL
  DYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIM
  YFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
  STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSS
  SCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTP
  ALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPE
  TLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSG
  ACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDA
  EPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEELTNALEISNI
  VFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMR
  VLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTL
  PDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLV
  AILVEGFQAEEISKREDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCL
  ALVSLGEHPELRKSLLPPLIIHTAATPMSLPKSTSTGLGEALGPASRRTSSSGSAEPGAA
  HEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPSGERRSLLSGEGQESQ
  DEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCN
  GKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFP
  PQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAV
  FLAEMTVKVVALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVL
  RLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFV
  CQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVG
  VDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRL
  RRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGV
  IGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDL
  AIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQAL
  PQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVST
  GDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKE
  AKEEAELEAELELEMKTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASH
  FSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQPSAFPSAPSLGGSDPQIPLAE
  MEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPGPDLLTVRKSG
  VSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP
  HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPS
  PPLARAYSFWGQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTE
  LSWISGDLLPPGGQEEPPSPRDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ
  PHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPPSPGICLRRRAPSSDS
  KDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP

• Sequence length: 2377

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
GnRH secretion
Type II diabetes mellitus
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 facial shape	Likely pathogenic	rs730882202	RCV000162106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skeletal system	Likely pathogenic	rs730882202	RCV000162106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1G-related disorder	Pathogenic	rs755221106	RCV000509294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirsutism	Likely pathogenic	rs730882202	RCV000162106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs886041505	RCV001264626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs781412936	RCV002274325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic	rs730882202	RCV000162106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs1051546563, rs2146284067	RCV001647151 RCV001647186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Likely pathogenic; Pathogenic	rs2145968180, rs2545574847, rs755221106, rs779508150, rs886041505, rs1555558553	RCV001806451 RCV002468816 RCV000763013 RCV003224923 RCV000677308 RCV000677309	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 42	Likely pathogenic; Pathogenic	rs2145795264, rs1250995341, rs755221106, rs2545574866, rs2039524843	RCV001647194 RCV001614476 RCV000207440 RCV003320010 RCV001251141	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; not provided; Uncertain significance	ClinVar CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile myoclonic epilepsy	not provided; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	16699497		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	23535033		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23535033		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	26715324, 28490766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19455149	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19455149		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19455149		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19455149	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26147197		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18161048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20849603	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26456284, 26715324, 32878331	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29878067, 31836334		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	38003592, 39674904	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32878331	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10493502, 17339237, 18084250, 20077021, 21625944		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16407376, 17065427, 17474983, 18834226, 25167802, 28469732, 29930328	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31957825	Stimulate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32878331	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32991460	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	31327507	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27112236, 28556246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Generalized	Generalized epilepsy	Pubtator	29924869, 31327507	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17397049		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	32878331	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	28556246		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	31404076		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	31404076	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	28655554	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	28806761		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18474104	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33243296	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	17397049		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	28556246		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21625944		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	26478226		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10493502		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24681432		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20849603	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29509247	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26147197		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10493502		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	23949819		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31334879		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24859205		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31229688		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37259724	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27856519	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36803844	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	19455149		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35715447	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32878331	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINOCEREBELLAR ATAXIA 42	Spinocerebellar Ataxia	UNIPROT_DG	26456284, 26715324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42	Spinocerebellar Ataxia	ORPHANET_DG	26456284, 26715324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	28726809, 29878067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42	Spinocerebellar Ataxia	BEFREE	30200108, 31229688, 31836334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	Spinocerebellar Ataxia, WITH NEURODEVELOPMENTAL DEFICITS	UNIPROT_DG	29878067		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	Spinocerebellar Ataxia, WITH NEURODEVELOPMENTAL DEFICITS	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	Spinocerebellar Ataxia, WITH NEURODEVELOPMENTAL DEFICITS	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 42	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	26715324, 33243296, 39674904	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	26715324, 33243296	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24577895	Associate	★☆☆☆☆ Found in Text Mining only