TBCE (tubulin folding cofactor E)

Gene

• Entrez ID: 6905
• Gene name: Tubulin folding cofactor E
• Gene symbol: TBCE
• Synonyms (NCBI Gene): HRD, KCS, KCS1, PEAMO, pac2
• Chromosome: 1
• Chromosome location: 1q42.3
• Summary: Cofactor E 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
rs121908384	T>A	Pathogenic	Stop gained, coding sequence variant
rs139440109	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141498084	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143886167	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs144448831	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372236046	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs569925016	AT>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs750781063	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs758937799	AG>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs767004810	GCCACGAAGGGA>-	Pathogenic-likely-pathogenic, pathogenic	Intron variant, inframe deletion, coding sequence variant
rs780472451	T>A	Pathogenic	Missense variant, coding sequence variant
rs1283368278	G>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1553336397	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1553339816	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1572324681	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572391840	AT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042552	hsa-miR-423-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	27666369
GO:0005515	Function	Protein binding	IPI	27666374
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	TAS	8706133
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007052	Process	Mitotic spindle organization	IMP	27666369
GO:0007409	Process	Axonogenesis	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0014889	Process	Muscle atrophy	IEA
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0048589	Process	Developmental growth	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0051087	Function	Protein-folding chaperone binding	TAS	8706133

Other IDs

• MIM: 604934
• HGNC: 11582
• e!Ensembl: ENSG00000284770

Protein

• UniProt ID: Q15813
• Protein name: Tubulin-specific chaperone E (Tubulin-folding cofactor E)
• Protein function: Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of
• PDB: 4ICU, 4ICV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01302	CAP_GLY	10 → 75	CAP-Gly domain	Domain
  PF14560	Ubiquitin_2	446 → 526	Ubiquitin-like domain	Domain

• Sequence:

  MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFK
  CRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIM
  KQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRH
  LEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN
  IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIG
  CKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIA
  SIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQF
  LCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR
  LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW

• Sequence length: 527

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
Autosomal recessive Kenny-Caffey syndrome	Likely pathogenic; Pathogenic	rs1188106799, rs767004810, rs758937799, rs1329466833, rs200356271, rs1572391840, rs1681531187	RCV005005995 RCV000191990 RCV000490495 RCV005014791 RCV001198592 RCV000991360 RCV005359861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorder of sexual differentiation	Likely pathogenic; Pathogenic	rs200356271	RCV001568319	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy, progressive, with amyotrophy and optic atrophy	Likely pathogenic; Pathogenic	rs1188106799, rs2102920283, rs767004810, rs758937799, rs1329466833, rs750781063, rs780472451, rs1553336397, rs200356271, rs1681531187	RCV005005995 RCV001807925 RCV003989279 RCV004796107 RCV005014791 RCV000412635 RCV000412509 RCV000625912 RCV005021158 RCV005359861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoparathyroidism-retardation-dysmorphism syndrome	Likely pathogenic; Pathogenic	rs1188106799, rs767004810, rs1572324681, rs121908384, rs758937799, rs1329466833, rs200356271, rs1572391840, rs1681531187	RCV005005995 RCV000005608 RCV000005610 RCV000005611 RCV000490495 RCV005014791 RCV005021158 RCV000991360 RCV005359861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs200356271	RCV005897382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBCE-related disorder	Likely pathogenic; Pathogenic	rs767004810, rs758937799, rs750781063, rs780472451, rs200356271	RCV005256548 RCV005237730 RCV002298580 RCV005407084 RCV004549847	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ 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
EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY, SPASTIC ATAXIA, DISTAL SPINAL MUSCULAR ATROPHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ 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	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SANJAD-SAKATI SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22535659		★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive Kenny-Caffey syndrome	Kenny-Caffey Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain Diseases	Brain disease	Pubtator	29921875	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28212573		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36258138	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	17257873, 30055029		★☆☆☆☆ Found in Text Mining only
Congenital hypoparathyroidism	Congenital hypoparathyroidism	BEFREE	16938882, 30055029		★☆☆☆☆ Found in Text Mining only
Congenital hypoparathyroidism	Congenital hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	27666369		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28218751		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12389028, 15645691, 2001103, 27666369, 7538982, 9475091		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	12389028, 27666369		★☆☆☆☆ Found in Text Mining only
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	27666369, 29921875		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY	Encephalopathy, With Amyotrophy And Optic Atrophy	ORPHANET_DG	27666369		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY	Encephalopathy, With Amyotrophy And Optic Atrophy	UNIPROT_DG	27666369		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY	Encephalopathy, With Amyotrophy And Optic Atrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY	Encephalopathy, With Amyotrophy And Optic Atrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	16938882	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22764442	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	BEFREE	30055029		★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic tetany	Hypocalcemic tetany	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	12389028, 25137426		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	16938882, 22764442, 30080992, 36258138	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	Hypoparathyroidism-retardation-dysmorphism syndrome	BEFREE	12389028, 17050283, 19491227, 30055029, 30080992		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	Hypoparathyroidism-retardation-dysmorphism syndrome	ORPHANET_DG	12389028		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	Hypoparathyroidism-retardation-dysmorphism syndrome	CTD_human_DG	12389028		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	Hypoparathyroidism-retardation-dysmorphism syndrome	CLINVAR_DG	12389028, 25097779		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	Hypoparathyroidism-retardation-dysmorphism syndrome	GENOMICS_ENGLAND_DG	16938882, 27666369		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16938882, 23996431	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23996431		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	BEFREE	17257873, 27666369		★☆☆☆☆ Found in Text Mining only
Kenny-Caffey syndrome	Kenny-Caffey Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	BEFREE	12389028, 23996431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	CLINVAR_DG	12389028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	ORPHANET_DG	12389028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	GENOMICS_ENGLAND_DG	16938882, 27666369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KENNY-CAFFEY SYNDROME, TYPE 1	Kenny-Caffey syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kenny-Caffey syndrome, type 2	Kenny-Caffey syndrome	CTD_human_DG	12389028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	23996431, 28218751		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22535659		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28212573		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26931795		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23996431		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30055029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	12389029		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12389028, 15645691, 2001103, 27666369, 7538982, 9475091		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25847936, 27454287, 29606854, 30126203, 30870286, 31194228, 31671191		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	19557161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	CTD_human_DG	12389028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	28212573		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27702817	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	26911378		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	24423332		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sanjad-Sakati syndrome	Hypoparathyroidism-retardation-dysmorphism syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	36258138	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of the medullary cavity of the long bones	Stenosis of the medullary cavity of the long bones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16470743, 19491227, 9634513		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25847929		★☆☆☆☆ Found in Text Mining only