CNTNAP1 (contactin associated protein 1)

Gene

• Entrez ID: 8506
• Gene name: Contactin associated protein 1
• Gene symbol: CNTNAP1
• Synonyms (NCBI Gene): CASPR, CHN3, CNTNAP, NRXN4, P190
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for `contactin-associated protein,` includes an extracellular domain with several putat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144659252	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs746361190	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs751050956	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs756896276	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs757901877	C>T	Pathogenic	Coding sequence variant, stop gained
rs761805324	C>T	Pathogenic	Coding sequence variant, missense variant
rs768554986	T>C	Pathogenic	Missense variant, coding sequence variant
rs778961637	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs779027563	G>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs786204799	->T	Pathogenic	Coding sequence variant, stop gained
rs786204800	GATA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs878853221	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691767	A>C	Pathogenic	Splice acceptor variant
rs1555642784	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567969825	T>C	Pathogenic	Missense variant, coding sequence variant
rs1567973088	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567973091	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597807901	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021803	hsa-miR-132-3p	Microarray	17612493
MIRT901725	hsa-miR-1	CLIP-seq
MIRT901726	hsa-miR-1255a	CLIP-seq
MIRT901727	hsa-miR-1255b	CLIP-seq
MIRT901728	hsa-miR-1275	CLIP-seq
MIRT901729	hsa-miR-15a	CLIP-seq
MIRT901730	hsa-miR-15b	CLIP-seq
MIRT901731	hsa-miR-16	CLIP-seq
MIRT901732	hsa-miR-195	CLIP-seq
MIRT901733	hsa-miR-206	CLIP-seq
MIRT901734	hsa-miR-28-5p	CLIP-seq
MIRT901735	hsa-miR-3139	CLIP-seq
MIRT901736	hsa-miR-424	CLIP-seq
MIRT901737	hsa-miR-4433	CLIP-seq
MIRT901738	hsa-miR-4459	CLIP-seq
MIRT901739	hsa-miR-4487	CLIP-seq
MIRT901740	hsa-miR-4515	CLIP-seq
MIRT901741	hsa-miR-4524	CLIP-seq
MIRT901742	hsa-miR-4525	CLIP-seq
MIRT901743	hsa-miR-4665-5p	CLIP-seq
MIRT901744	hsa-miR-4723-5p	CLIP-seq
MIRT901745	hsa-miR-4768-3p	CLIP-seq
MIRT901746	hsa-miR-4782-5p	CLIP-seq
MIRT901747	hsa-miR-497	CLIP-seq
MIRT901748	hsa-miR-503	CLIP-seq
MIRT901749	hsa-miR-613	CLIP-seq
MIRT901750	hsa-miR-625	CLIP-seq
MIRT901751	hsa-miR-637	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT901753	hsa-miR-708	CLIP-seq
MIRT1967473	hsa-miR-1207-5p	CLIP-seq
MIRT1967474	hsa-miR-4763-3p	CLIP-seq
MIRT1967475	hsa-miR-486-3p	CLIP-seq
MIRT2203193	hsa-miR-1251	CLIP-seq
MIRT2203194	hsa-miR-3173-5p	CLIP-seq
MIRT2203195	hsa-miR-3976	CLIP-seq
MIRT2203196	hsa-miR-4684-5p	CLIP-seq
MIRT2203197	hsa-miR-4768-5p	CLIP-seq
MIRT2203198	hsa-miR-4793-3p	CLIP-seq
MIRT2203199	hsa-miR-518d-5p	CLIP-seq
MIRT2203200	hsa-miR-519b-5p	CLIP-seq
MIRT2203201	hsa-miR-519c-5p	CLIP-seq
MIRT2203202	hsa-miR-520c-5p	CLIP-seq
MIRT2203203	hsa-miR-526a	CLIP-seq
MIRT2386323	hsa-miR-4436a	CLIP-seq
MIRT2386324	hsa-miR-4700-3p	CLIP-seq
MIRT2427392	hsa-miR-1207-3p	CLIP-seq
MIRT2427393	hsa-miR-1273f	CLIP-seq
MIRT2427394	hsa-miR-2277-3p	CLIP-seq
MIRT2427395	hsa-miR-4756-3p	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT2506151	hsa-miR-3173-3p	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506153	hsa-miR-4779	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002175	Process	Protein localization to paranode region of axon	IEA
GO:0002175	Process	Protein localization to paranode region of axon	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	9118959
GO:0007409	Process	Axonogenesis	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	ISS
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019227	Process	Neuronal action potential propagation	ISS
GO:0022010	Process	Central nervous system myelination	IMP	28374019
GO:0022011	Process	Myelination in peripheral nervous system	IMP	24319099, 27818385, 28374019
GO:0030913	Process	Paranodal junction assembly	IEA
GO:0030913	Process	Paranodal junction assembly	IMP	27818385
GO:0030913	Process	Paranodal junction assembly	ISS
GO:0031175	Process	Neuron projection development	IEA
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	IEA
GO:0033270	Component	Paranode region of axon	ISS
GO:0038023	Function	Signaling receptor activity	TAS	9118959
GO:0042552	Process	Myelination	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	IMP	24319099, 27818385
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0097106	Process	Postsynaptic density organization	IEA
GO:0098529	Process	Neuromuscular junction development, skeletal muscle fiber	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1990227	Process	Paranodal junction maintenance	IEA

Other IDs

• MIM: 602346
• HGNC: 8011
• e!Ensembl: ENSG00000108797

Protein

• UniProt ID: P78357
• Protein name: Contactin-associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin-4) (p190)
• Protein function: Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the par
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	37 → 165	F5/8 type C domain	Domain
  PF02210	Laminin_G_2	203 → 332	Laminin G domain	Domain
  PF02210	Laminin_G_2	389 → 515	Laminin G domain	Domain
  PF02210	Laminin_G_2	813 → 939	Laminin G domain	Domain
  PF02210	Laminin_G_2	1088 → 1218	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.
• Sequence:

  MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISG
  WSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHN
  STFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGD
  DAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGS
  SPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
  MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVP
  HPINFGGPHNFVQVPGFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVN
  VSIAQSGRKKLQFAAGYRLNDGFWHEVNFVAQENHAVISIDDVEGAEVRVSYPLLIRTGT
  SYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGRRLGFYAEVLFDTCGI
  TDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
  DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVS
  ALANASQHCEQWIEFSCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLD
  RSCVDPALYCNCDADQPQWRTDKGLLTFVDHLPVTQVVIGDTNRSTSEAQFFLRPLRCYG
  DRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLENMGGPYCQWRRPYVRV
  ELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
  MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGH
  CAHPRLPCFHGGRCVERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSA
  AREFSHMLSRPVPGYEPGYIPGYDTPGYVPGYHGPGYRLPDYPRPGRPVPGYRGPVYNVT
  GEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLGTSPYVYQLTTRPVTD
  GQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
  YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEV
  PPELDPWYLPPDFPYYHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEP
  KAAHEYHPGSKPPLPTSGPAQVPTPTAAPNQAPASAPAPAPTPAPAPGPRDQNLPQILEE
  SRSE

• Sequence length: 1384

Pathways

KEGG:

Cell adhesion molecules

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
Arthrogryposis multiplex congenita	Pathogenic; Likely pathogenic	rs1597802927, rs1597807901	RCV000855460 RCV000855461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis, distal, type 1A	Pathogenic	rs1567973091	RCV000679953	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypomyelination neuropathy with or without arthrogryposis	Likely pathogenic	rs2143676048	RCV002260551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Pathogenic; Likely pathogenic	rs1597802927, rs1597807901	RCV000855460 RCV000855461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal congenital contracture syndrome 7	Pathogenic; Likely pathogenic	rs2053168326, rs2143661323, rs2053035301, rs786204799, rs786204800, rs751050956, rs1555642784, rs746361190, rs2543806196, rs144659252	RCV001334155 RCV002226969 RCV002226998 RCV000169694 RCV000169695 RCV000186508 RCV000496980 RCV000256459 RCV004586422 RCV000853286	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy, congenital hypomyelinating, 3	Pathogenic; Likely pathogenic	rs142756549, rs751050956, rs878853221, rs768554986, rs2543793851, rs2543806196, rs1567973091, rs1567969825, rs1567973088, rs756896276	RCV004785291 RCV001813766 RCV000722098 RCV000722097 RCV003448851 RCV004586422 RCV001030776 RCV000722094 RCV000722095 RCV000722100	★★★★★ 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
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4E	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTNAP1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF CLAVICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF FOREARM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF SCAPULA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF WRIST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF GLENOHUMERAL JOINT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME	—	Disgenet	★★☆☆☆ 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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	1728947, 1932753, 2693843		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12651265, 16707466, 1932753, 20703256, 2915904, 30784762, 7564511, 8639433, 8652835, 8756076, 9787174		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	9266939		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	7765322		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7765322		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12651265, 20703256, 2247753, 30784762, 7564511, 8652835, 8756076		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	24319099, 27782105, 28254648, 29882456		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	27782105, 28254648, 29882456, 33820833	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	18670637	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21308999		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21308999	Associate	★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	11097354, 11368359, 11792422, 1591003, 16228048, 1847983, 7869772, 9360779		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	32052899, 35456386	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15949566, 2013978, 21523337, 2223646, 2247753, 2434223, 8652835, 9530344		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulbar palsy	Bulbar palsy	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35023290	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28254648		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12651265, 1467514, 20703256, 30784762, 7564511, 8652835, 8756076		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30463063		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	27668699, 29511323, 30686628, 31777123		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	27782105, 29511323, 29882456	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	27484312	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	30582947		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	19135771	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	2232886		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32859541	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination Neuropathy-Arthrogryposis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29511323	Associate	★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURE SYNDROME 7	Lethal Congenital Contracture Syndrome	GENOMICS_ENGLAND_DG	24319099, 27668699		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7	Lethal Congenital Contracture Syndrome	UNIPROT_DG	24319099, 27782105, 28254648, 28374019		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7	Lethal Congenital Contracture Syndrome	CLINVAR_DG	27668699		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
leukemia	Leukemia	BEFREE	10615128, 10979970, 12082638, 1847983, 3027581, 8652835		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	7756172	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32859541, 8562932, 9266939	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16393682, 16490599, 2247753, 30630459, 9266939		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	10586207, 8289491		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	16707466, 30784762		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10979970		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27777418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	16228048		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16776779		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16228048		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	10586207		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30582947		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8639433		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	9266939	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10224280, 10586207, 11097354, 11368359, 15949566, 18495245, 19531657, 2013978, 21523337, 2223646, 2247753, 2693843, 2915904, 30463063, 8289491, 8652835, 8756076, 9360779, 9530344, 9787174, 9827937, 9858221		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12600941		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29882456	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21308999		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27782105		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	Neuropathy	UNIPROT_DG	27668699, 27818385, 28374019, 29511323		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	Neuropathy	GENOMICS_ENGLAND_DG	27668699		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	Neuropathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
oligodendroglioma	Oligodendroglioma	BEFREE	12600941		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG	27668699		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	29882456		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11496158, 27616481		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27616481	Associate	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	8317466		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28111465		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16707466, 1932753, 2915904, 30784762, 9787174		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	10586207		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	9783805		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	29845291		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	35359983	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12600941		★☆☆☆☆ Found in Text Mining only