TBCD (tubulin folding cofactor D)

Gene

• Entrez ID: 6904
• Gene name: Tubulin folding cofactor D
• Gene symbol: TBCD
• Synonyms (NCBI Gene): PEBAT, SSD-1, tfcD
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs181969865	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs187081192	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs749225304	G>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs750717767	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs752953575	C>G,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, missense variant, non coding transcript variant
rs754750539	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs755177846	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs760635077	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs764085684	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs773790897	C>T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs775014444	G>A	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs778417127	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs780523169	G>A	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs886041084	C>G	Pathogenic	Genic upstream transcript variant, intron variant
rs886041085	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041086	T>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs886041087	C>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs949623707	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1311737177	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1409600874	A>G,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1419604407	C>T	Pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1555641324	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs1555649346	G>-	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1568044300	->TAATA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1599617641	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024063	hsa-miR-1-3p	Proteomics	18668040
MIRT1414080	hsa-miR-1263	CLIP-seq
MIRT1414081	hsa-miR-1297	CLIP-seq
MIRT1414082	hsa-miR-24	CLIP-seq
MIRT1414083	hsa-miR-2467-3p	CLIP-seq
MIRT1414084	hsa-miR-26a	CLIP-seq
MIRT1414085	hsa-miR-26b	CLIP-seq
MIRT1414086	hsa-miR-3135b	CLIP-seq
MIRT1414087	hsa-miR-3155	CLIP-seq
MIRT1414088	hsa-miR-3155b	CLIP-seq
MIRT1414089	hsa-miR-3186-5p	CLIP-seq
MIRT1414090	hsa-miR-3188	CLIP-seq
MIRT1414091	hsa-miR-3612	CLIP-seq
MIRT1414092	hsa-miR-3617	CLIP-seq
MIRT1414093	hsa-miR-3664-3p	CLIP-seq
MIRT1414094	hsa-miR-3692	CLIP-seq
MIRT1414095	hsa-miR-3714	CLIP-seq
MIRT1414096	hsa-miR-3919	CLIP-seq
MIRT1414097	hsa-miR-4443	CLIP-seq
MIRT1414098	hsa-miR-4465	CLIP-seq
MIRT1414099	hsa-miR-4469	CLIP-seq
MIRT1414100	hsa-miR-4476	CLIP-seq
MIRT1414101	hsa-miR-4493	CLIP-seq
MIRT1414102	hsa-miR-4514	CLIP-seq
MIRT1414103	hsa-miR-4645-5p	CLIP-seq
MIRT1414104	hsa-miR-4673	CLIP-seq
MIRT1414105	hsa-miR-4692	CLIP-seq
MIRT1414106	hsa-miR-4733-3p	CLIP-seq
MIRT1414107	hsa-miR-4737	CLIP-seq
MIRT1414108	hsa-miR-4756-3p	CLIP-seq
MIRT1414109	hsa-miR-483-5p	CLIP-seq
MIRT1414110	hsa-miR-484	CLIP-seq
MIRT1414111	hsa-miR-548an	CLIP-seq
MIRT1414112	hsa-miR-599	CLIP-seq
MIRT1414113	hsa-miR-641	CLIP-seq
MIRT1414114	hsa-miR-650	CLIP-seq
MIRT1414115	hsa-miR-873	CLIP-seq
MIRT1414116	hsa-miR-940	CLIP-seq
MIRT2124246	hsa-miR-1226	CLIP-seq
MIRT1414083	hsa-miR-2467-3p	CLIP-seq
MIRT2124247	hsa-miR-3158-5p	CLIP-seq
MIRT2124248	hsa-miR-3184	CLIP-seq
MIRT1414092	hsa-miR-3617	CLIP-seq
MIRT2124249	hsa-miR-3678-3p	CLIP-seq
MIRT2124250	hsa-miR-423-5p	CLIP-seq
MIRT2124251	hsa-miR-4418	CLIP-seq
MIRT1414102	hsa-miR-4514	CLIP-seq
MIRT1414103	hsa-miR-4645-5p	CLIP-seq
MIRT1414104	hsa-miR-4673	CLIP-seq
MIRT1414105	hsa-miR-4692	CLIP-seq
MIRT1414106	hsa-miR-4733-3p	CLIP-seq
MIRT2124252	hsa-miR-4793-3p	CLIP-seq
MIRT2124253	hsa-miR-509-3-5p	CLIP-seq
MIRT2124254	hsa-miR-509-5p	CLIP-seq
MIRT1414113	hsa-miR-641	CLIP-seq
MIRT1414115	hsa-miR-873	CLIP-seq
MIRT1414116	hsa-miR-940	CLIP-seq
MIRT2346549	hsa-miR-1207-3p	CLIP-seq
MIRT1414081	hsa-miR-1297	CLIP-seq
MIRT2346550	hsa-miR-188-3p	CLIP-seq
MIRT2346551	hsa-miR-214	CLIP-seq
MIRT1414084	hsa-miR-26a	CLIP-seq
MIRT1414085	hsa-miR-26b	CLIP-seq
MIRT1414086	hsa-miR-3135b	CLIP-seq
MIRT1414091	hsa-miR-3612	CLIP-seq
MIRT2346552	hsa-miR-3619-5p	CLIP-seq
MIRT1414095	hsa-miR-3714	CLIP-seq
MIRT1414097	hsa-miR-4443	CLIP-seq
MIRT1414098	hsa-miR-4465	CLIP-seq
MIRT1414100	hsa-miR-4476	CLIP-seq
MIRT2346553	hsa-miR-532-3p	CLIP-seq
MIRT1414112	hsa-miR-599	CLIP-seq
MIRT1414114	hsa-miR-650	CLIP-seq
MIRT2346554	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IMP	27666370
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	20740604
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	10831612
GO:0005515	Function	Protein binding	IPI	10831612, 18588884, 21044950, 27666374, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	27666370
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	TAS	8706133
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IDA	20740604
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IDA	28158450
GO:0007021	Process	Tubulin complex assembly	IEA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IEA
GO:0010812	Process	Negative regulation of cell-substrate adhesion	ISS
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IBA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0031115	Process	Negative regulation of microtubule polymerization	IDA	10831612, 20740604
GO:0031115	Process	Negative regulation of microtubule polymerization	IEA
GO:0034333	Process	Adherens junction assembly	IBA
GO:0034333	Process	Adherens junction assembly	ISS
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	IDA	10831612
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IMP	27666374
GO:0051087	Function	Protein-folding chaperone binding	TAS	8706133
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	ISS

Other IDs

• MIM: 604649
• HGNC: 11581
• e!Ensembl: ENSG00000141556

Protein

• UniProt ID: Q9BTW9
• Protein name: Tubulin-specific chaperone D (Beta-tubulin cofactor D) (tfcD) (SSD-1) (Tubulin-folding cofactor D)
• Protein function: Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by cap
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12612	TFCD_C	900 → 1087	Tubulin folding cofactor D C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:11110777}.
• Sequence:

  MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERF
  RVIMDKYQEQPHLLDPHLEWMMNLLLDIVQDQTSPASLVHLAFKFLYIITKVRGYKTFLR
  LFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
  ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKMAEFLDWSLCNLARSS
  FQTMQGVITMDGTLQALAQIFKHGKREDCLPYAATVLRCLDGCRLPESNQTLLRKLGVKL
  VQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVER
  VIEQLLVGLKDKDTVVRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGC
  LALAELGRRGLLLPSRLVDVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEP
  QELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVG
  NRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARALHNLAQQAPEFSAT
  QVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQ
  QLYDRQLYRGLGGQLMRQAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSH
  SRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNPEEMTRCGFSLALG
  ALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAV
  CGENVSQIYCALLGCMDDYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCE
  RIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEKLFPRSDVASVNWS
  APSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALG
  SFSGTLLQIFEDNLLNERVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIK
  NSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYS
  DVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLGVPRPQLVPQPGAC

• Sequence length: 1192

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
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Pathogenic; Likely pathogenic	rs2060355104, rs751190601, rs2146947108, rs1161413517, rs751754677, rs1428485417, rs1325049235, rs886041084, rs181969865, rs886041085, rs886041086, rs754750539, rs886041087, rs764085684, rs775014444, rs2510734532, rs2510643985, rs2510548443, rs1568075346, rs1555641324, rs1409600874, rs773790897, rs752953575, rs1599617641	RCV001332705 RCV001839254 RCV005017037 RCV002238620 RCV003155472 RCV005419424 RCV002286461 RCV000258897 RCV000258905 RCV000258913 RCV000258898 RCV000258906 RCV000258900 RCV000258901 RCV001610768 RCV003311580 RCV003311581 RCV003333299 RCV003492876 RCV000723330 RCV000995888 RCV000853292 RCV000995889 RCV000995890	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Pathogenic	rs2510784493	RCV005931613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1555649346	RCV005869587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2510369372	RCV005931512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBCD-related disorder	Likely pathogenic; Pathogenic	rs751754677, rs1568075346	RCV003403753 RCV003408539	★★★★☆ 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
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY, MICROCEPHALY, MUSCLE WEAKNESS, OPTIC ATROPHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thiel-Behnke corneal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Afibrinogenemia	Afibrinogenemia	Pubtator	29769041	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	37569761	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26025128		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	26025128	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	27666370, 29769041	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27666370, 29769041, 29921875	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	38003592	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34311674	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	11927442		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	27666370	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	27666370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	27666370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	37569761	Associate	★☆☆☆☆ Found in Text Mining only
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathies	Epileptic encephalopathy	BEFREE	27666370, 27666374, 27928163, 29769041, 29921875, 31240573		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM	Encephalopathy With Brain Atrophy And Thin Corpus Callosum	UNIPROT_DG	27666370, 27666374, 27807845, 28158450		★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM	Encephalopathy With Brain Atrophy And Thin Corpus Callosum	CTD_human_DG	27666370, 27666374		★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM	Encephalopathy With Brain Atrophy And Thin Corpus Callosum	ORPHANET_DG	27666370, 27666374, 27807845		★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM	Encephalopathy With Brain Atrophy And Thin Corpus Callosum	GENOMICS_ENGLAND_DG	27666374		★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM	Encephalopathy With Brain Atrophy And Thin Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37569761	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	29769041		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	27928163		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	29769041		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	27666370		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27666370, 37569761	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	27666370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	27666370, 27666374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	27666370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	27666370, 27666374		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27666370, 29769041, 29921875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	27666370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27807845, 28158450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CTD_human_DG	27666370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic atrophy	Pubtator	27666370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CTD_human_DG	27666374		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26728569		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27666370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	27666370, 27666374		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	27928163		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	15303240, 28555406	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	27666370		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	GENOMICS_ENGLAND_DG	27666374		★☆☆☆☆ Found in Text Mining only