NALCN (sodium leak channel, non-selective)

Gene

• Entrez ID: 259232
• Gene name: Sodium leak channel, non-selective
• Gene symbol: NALCN
• Synonyms (NCBI Gene): CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1
• Chromosome: 13
• Chromosome location: 13q32.3-q33.1
• Summary: This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201402954	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376152742	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs527789070	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, stop gained
rs587777038	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs587777068	C>A	Pathogenic	Missense variant, coding sequence variant
rs757674263	G>A	Pathogenic	Stop gained, coding sequence variant
rs762389271	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs763237578	C>G,T	Likely-pathogenic	Intron variant
rs766421214	G>A	Pathogenic	Stop gained, coding sequence variant
rs771015295	G>A,C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs772394714	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs786201003	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs786203984	T>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs786203985	A>C	Pathogenic	Coding sequence variant, missense variant
rs786203986	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs786203987	A>G	Pathogenic	Coding sequence variant, missense variant
rs786203988	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs869025188	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312873	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs869312952	C>G,T	Pathogenic	Splice donor variant
rs878853127	A>C	Pathogenic	Coding sequence variant, missense variant
rs878853128	T>G	Pathogenic	Coding sequence variant, missense variant
rs878853129	A>G	Pathogenic	Coding sequence variant, missense variant
rs878853130	A>G	Pathogenic	Coding sequence variant, missense variant
rs878853131	G>T	Pathogenic	Coding sequence variant, missense variant
rs878853132	A>C	Pathogenic	Coding sequence variant, missense variant
rs878853133	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853134	G>T	Pathogenic	Coding sequence variant, missense variant
rs972964381	G>A	Pathogenic	Coding sequence variant, stop gained
rs1031314447	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057516040	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519432	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057519433	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064794722	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795423	A>C	Pathogenic	Coding sequence variant, missense variant
rs1064796154	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1158141270	C>A	Likely-pathogenic	Splice donor variant
rs1158771233	G>T	Pathogenic	Coding sequence variant, stop gained
rs1255534617	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1333710212	T>C	Pathogenic	Splice acceptor variant
rs1459166839	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1555309004	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555373511	C>G	Likely-pathogenic	Splice acceptor variant
rs1555375944	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555378616	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555379886	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555381108	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555383003	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566385468	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566460907	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566815386	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1594134160	G>T	Pathogenic	Coding sequence variant, missense variant
rs1594146891	A>G	Pathogenic	Splice donor variant
rs1594168638	G>A	Pathogenic	Stop gained, coding sequence variant
rs1594168705	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1594211051	TTAC>-	Pathogenic	Splice donor variant, intron variant
rs1594211244	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1594211334	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594211911	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1594212468	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594218864	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1594368726	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594368753	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594616249	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594759803	C>-	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1594761911	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023347	hsa-miR-122-5p	Microarray	17612493
MIRT1173192	hsa-miR-1200	CLIP-seq
MIRT1173193	hsa-miR-1254	CLIP-seq
MIRT1173194	hsa-miR-1278	CLIP-seq
MIRT1173195	hsa-miR-1537	CLIP-seq
MIRT1173196	hsa-miR-2054	CLIP-seq
MIRT1173197	hsa-miR-300	CLIP-seq
MIRT1173198	hsa-miR-3116	CLIP-seq
MIRT1173199	hsa-miR-381	CLIP-seq
MIRT1173200	hsa-miR-3907	CLIP-seq
MIRT1173201	hsa-miR-4282	CLIP-seq
MIRT1173202	hsa-miR-4324	CLIP-seq
MIRT1173203	hsa-miR-4327	CLIP-seq
MIRT1173204	hsa-miR-4528	CLIP-seq
MIRT1173205	hsa-miR-4666-3p	CLIP-seq
MIRT1173206	hsa-miR-4789-5p	CLIP-seq
MIRT1173207	hsa-miR-4793-5p	CLIP-seq
MIRT1173208	hsa-miR-544b	CLIP-seq
MIRT1173209	hsa-miR-548q	CLIP-seq
MIRT1173210	hsa-miR-616	CLIP-seq
MIRT1173211	hsa-miR-636	CLIP-seq
MIRT1173212	hsa-miR-661	CLIP-seq
MIRT2050200	hsa-miR-129-5p	CLIP-seq
MIRT2050200	hsa-miR-129-5p	CLIP-seq
MIRT1173196	hsa-miR-2054	CLIP-seq
MIRT2279099	hsa-miR-3908	CLIP-seq
MIRT1173201	hsa-miR-4282	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	32698188
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	32494638
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	ISS
GO:0005272	Function	Sodium channel activity	IEA
GO:0005272	Function	Sodium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	19575010, 25416956
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	31409833, 32698188
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022840	Function	Leak channel activity	ISS
GO:0032224	Process	Positive regulation of synaptic transmission, cholinergic	IBA
GO:0032230	Process	Positive regulation of synaptic transmission, GABAergic	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060075	Process	Regulation of resting membrane potential	ISS
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0071805	Process	Potassium ion transmembrane transport	ISS

Other IDs

• MIM: 611549
• HGNC: 19082
• e!Ensembl: ENSG00000102452

Protein

• UniProt ID: Q8IZF0
• Protein name: Sodium leak channel NALCN (CanIon) (Sodium leak channel non-selective protein) (Voltage gated channel-like protein 1)
• Protein function: Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:17448995, PubMed:31409833). NALCN channel functions as a multi-protein complex, which consists at least of NALCN, NALF1, UNC79 a
• PDB: 6XIW, 7CM3, 7SX3, 7SX4, 7WJI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	35 → 333	Ion transport protein	Family
  PF00520	Ion_trans	383 → 609	Ion transport protein	Family
  PF00520	Ion_trans	885 → 1166	Ion transport protein	Family
  PF00520	Ion_trans	1209 → 1458	Ion transport protein	Family

• Sequence:

  MLKRKQSSRVEAQPVTDFGPDESLSDNADILWINKPWVHSLLRICAIISVISVCMNTPMT
  FEHYPPLQYVTFTLDTLLMFLYTAEMIAKMHIRGIVKGDSSYVKDRWCVFDGFMVFCLWV
  SLVLQVFEIADIVDQMSPWGMLRIPRPLIMIRAFRIYFRFELPRTRITNILKRSGEQIWS
  VSIFLLFFLLLYGILGVQMFGTFTYHCVVNDTKPGNVTWNSLAIPDTHCSPELEEGYQCP
  PGFKCMDLEDLGLSRQELGYSGFNEIGTSIFTVYEAASQEGWVFLMYRAIDSFPRWRSYF
  YFITLIFFLAWLVKNVFIAVIIETFAEIRVQFQQMWGSRSSTTSTATTQMFHEDAAGGWQ
  LVAVDVNKPQGRAPACLQKMMRSSVFHMFILSMVTVDVIVAASNYYKGENFRRQYDEFYL
  AEVAFTVLFDLEALLKIWCLGFTGYISSSLHKFELLLVIGTTLHVYPDLYHSQFTYFQVL
  RVVRLIKISPALEDFVYKIFGPGKKLGSLVVFTASLLIVMSAISLQMFCFVEELDRFTTF
  PRAFMSMFQILTQEGWVDVMDQTLNAVGHMWAPVVAIYFILYHLFATLILLSLFVAVILD
  NLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRE
  SFMKQFIDRQQQDTCCLLRSLPTTSSSSCDHSKRSAIEDNKYIDQKLRKSVFSIRARNLL
  EKETAVTKILRACTRQRMLSGSFEGQPAKERSILSVQHHIRQERRSLRHGSNSQRISRGK
  SLETLTQDHSNTVRYRNAQREDSEIKMIQEKKEQAEMKRKVQEEELRENHPYFDKPLFIV
  GREHRFRNFCRVVVRARFNASKTDPVTGAVKNTKYHQLYDLLGLVTYLDWVMIIVTICSC
  ISMMFESPFRRVMHAPTLQIAEYVFVIFMSIELNLKIMADGLFFTPTAVIRDFGGVMDIF
  IYLVSLIFLCWMPQNVPAESGAQLLMVLRCLRPLRIFKLVPQMRKVVRELFSGFKEIFLV
  SILLLTLMLVFASFGVQLFAGKLAKCNDPNIIRREDCNGIFRINVSVSKNLNLKLRPGEK
  KPGFWVPRVWANPRNFNFDNVGNAMLALFEVLSLKGWVEVRDVIIHRVGPIHGIYIHVFV
  FLGCMIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIAQPLHLPPRPDNDGFR
  AKMYDITQHPFFKRTIALLVLAQSVLLSVKWDVEDPVTVPLATMSVVFTFIFVLEVTMKI
  IAMSPAGFWQSRRNRYDLLVTSLGVVWVVLHFALLNAYTYMMGACVIVFRFFSICGKHVT
  LKMLLLTVVVSMYKSFFIIVGMFLLLLCYAFAGVVLFGTVKYGENINRHANFSSAGKAIT
  VLFRIVTGEDWNKIMHDCMVQPPFCTPDEFTYWATDCGNYAGALMYFCSFYVIIAYIMLN
  LLVAIIVENFSLFYSTEEDQLLSYNDLRHFQIIWNMVDDKREGVIPTFRVKFLLRLLRGR
  LEVDLDKDKLLFKHMCYEMERLHNGGDVTFHDVLSMLSYRSVDIRKSLQLEELLAREQLE
  YTIEEEVAKQTIRMWLKKCLKRIRAKQQQSCSIIHSLRESQQQELSRFLNPPSIETTQPS
  EDTNANSQDNSMQPETSSQQQLLSPTLSDRGGSRQDAADAGKPQRKFGQWRLPSAPKPIS
  HSVSSVNLRFGGRTTMKSVVCKMNPMTDAASCGSEVKKWWTRQLTVESDESGDDLLDI

• Sequence length: 1738

Pathways

Reactome:

Stimuli-sensing channels

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 pattern of respiration	Pathogenic	rs869312873	RCV000210426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2140132954, rs2140156819, rs2041614157	RCV001814522 RCV001814347 RCV001814276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1594368753, rs1594616249, rs762389271	RCV000855468 RCV000855467 RCV000855469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis syndrome	Likely pathogenic; Pathogenic	rs786203988	RCV005625484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cachexia	Pathogenic	rs869312873	RCV000210426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital contractures of the limbs and face, hypotonia, and developmental delay	Likely pathogenic; Pathogenic	rs2139938444, rs2139420897, rs2139514134, rs541633673, rs2139519168, rs774096141, rs2139938691, rs878853129, rs786203984, rs786203985, rs786203986, rs786203987, rs786203988, rs786201003, rs2502043267, rs2548588794, rs757674263, rs878853127, rs878853128, rs878853130, rs878853131, rs878853132, rs878853133, rs878853134, rs2033731019, rs2503301904, rs2502140131, rs1057516040, rs1057519432, rs1057519433, rs1158141270, rs1566385468, rs1566460907, rs1031314447, rs1594218864, rs1594368726, rs1555378616, rs2043584001, rs2033787523	RCV001868410 RCV001725863 RCV001775426 RCV002478009 RCV002250800 RCV003235691 RCV002271994 RCV003159077 RCV000167528 RCV000167529 RCV000167530 RCV000167531 RCV000167532 RCV000224736 RCV002468750 RCV003234204 RCV003984831 RCV000224385 RCV000224193 RCV000224534 RCV000224757 RCV000224900 RCV000224242 RCV000224921 RCV000224612 RCV001254037 RCV003493341 RCV004560339 RCV004586434 RCV000408614 RCV000416437 RCV000416463 RCV000763319 RCV000768409 RCV000768410 RCV003984848 RCV001252584 RCV000853279 RCV001007895 RCV001250195 RCV002464434	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1594368753, rs1594616249, rs762389271	RCV000855468 RCV000855467 RCV000855469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Likely pathogenic; Pathogenic	rs541633673, rs2139438975, rs774096141, rs2033656475, rs2501833379, rs2502452053, rs2548589416, rs376152742, rs1158141270, rs1158771233, rs1555379886, rs1333710212, rs1459166839, rs1594134160, rs1031314447, rs1594168638, rs772394714, rs766421214, rs1594211334, rs1594212468, rs1594218864, rs1594759803, rs1594761911, rs1594146891, rs1594211051, rs587777038, rs1594168705, rs1594211244, rs1594211911, rs2041614157, rs869025188, rs587777068, rs2046702287	RCV002478009 RCV002052429 RCV002250917 RCV002255774 RCV002283795 RCV003152549 RCV003338145 RCV001090146 RCV000763319 RCV000625918 RCV000625775 RCV005357875 RCV000845223 RCV000845219 RCV000845225 RCV000845221 RCV000845218 RCV000845216 RCV000845227 RCV000845217 RCV000845222 RCV000845228 RCV000845226 RCV000845220 RCV000845224 RCV000055644 RCV000985067 RCV000985052 RCV001004862 RCV001169972 RCV000074369 RCV000074370 RCV001291687	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs2139465605	RCV001526696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability with episodic ataxia and congenital arthrogryposis	Likely pathogenic; Pathogenic	rs786201003	RCV000167764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NALCN-related disorder	Likely pathogenic; Pathogenic	rs878853129, rs1426944195, rs1308457240, rs376152742, rs1031314447, rs1594368726	RCV004534040 RCV003335867 RCV004529761 RCV005250079 RCV003336223 RCV004538169	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2139408863	RCV001780032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs869312873	RCV000210426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Pathogenic	rs869312873	RCV000210426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Pathogenic	rs869312873	RCV000210426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity; association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURE OF LIMBS AND FACE, HYPOTONIA, DEVELOPMENTAL DELAY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LIMBS-FACE CONTRACTURES-HYPOTONIA-DEVELOPMENTAL DELAY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia, infantile, with psychomotor retardation and characteristic facies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHELDON-HALL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33797837	Associate	★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	29610177	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	25676789		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25864427, 27558372		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	ORPHANET_DG	25683120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	25683120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis-like hand anomaly	Arthrogryposis-like hand anomaly	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24075186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Crisis	Blast crisis	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24075186, 29610177	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23749988		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	27473021		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	GENOMICS_ENGLAND_DG	24075186, 25683120		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	BEFREE	25683120, 27558372, 30167850, 31409833		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	UNIPROT_DG	25683120		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CLINVAR_DG	25683120, 26938784		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	24075186	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	25683120, 30167850, 31409833, 35055596	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25683120, 30167850, 31409833, 35055596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	25683120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	25683120		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	29168298		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	24227479, 33557955	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26708753, 31601786		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37789421	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	24075186, 29610177	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	ORPHANET_DG	25683120		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27473021, 27558372, 31409833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	25676789		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34324492	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1	Hypotonia, With Psychomotor Retardation And Characteristic Facies	UNIPROT_DG	23749988, 24075186		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1	Hypotonia, With Psychomotor Retardation And Characteristic Facies	GENOMICS_ENGLAND_DG	24075186		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1	Hypotonia, With Psychomotor Retardation And Characteristic Facies	BEFREE	29399786		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	Hypotonia, With Psychomotor Retardation And Characteristic Facies	BEFREE	30167850		★☆☆☆☆ Found in Text Mining only
Hypotonia-speech impairment-severe cognitive delay syndrome	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	23749988		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24075186, 25683120, 31409833, 35055596	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	25864427, 29168298		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	29610177	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29399786		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	29968795		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	30167850	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27297950	Inhibit	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20674038, 30308413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24075186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	25683120, 31601786		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	CLINVAR_DG	26923739		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sheldon-Hall syndrome	Sheldon-Hall Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Central	Sleep apnea	Pubtator	29610177	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	29610177	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	29168298		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	26923739		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only