EFNB1 (ephrin B1)

Gene

• Entrez ID: 1947
• Gene name: Ephrin B1
• Gene symbol: EFNB1
• Synonyms (NCBI Gene): CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935170	G>T	Pathogenic	Coding sequence variant, missense variant
rs28936069	G>A	Pathogenic	Coding sequence variant, missense variant
rs28936070	G>T	Pathogenic	Coding sequence variant, missense variant
rs28936071	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs104894796	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894801	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894802	T>G	Pathogenic	Coding sequence variant, missense variant
rs104894803	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894804	C>T	Pathogenic	Coding sequence variant, stop gained
rs587777109	C>T	Pathogenic	Stop gained, coding sequence variant
rs879255545	->CCGTATCCTGGAGC	Pathogenic	Frameshift variant, coding sequence variant
rs886041800	T>G	Pathogenic	Stop gained, coding sequence variant
rs886041811	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1057519033	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519034	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519035	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793438	AGCTGCCTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1556096780	T>A	Pathogenic	Splice donor variant
rs1556105849	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556105875	A>T	Pathogenic	Stop gained, coding sequence variant
rs1556106318	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556107481	G>A	Likely-pathogenic	Splice donor variant
rs1556107856	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1556107925	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569398276	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602670769	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602671282	TGAGTG>-	Likely-pathogenic	Splice donor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000478	hsa-miR-124-3p	qRT-PCR, Luciferase reporter assay, Western blot	20308325
MIRT025289	hsa-miR-34a-5p	Proteomics	21566225
MIRT025289	hsa-miR-34a-5p	Proteomics	21566225
MIRT025289	hsa-miR-34a-5p	Proteomics	21566225
MIRT025289	hsa-miR-34a-5p	Proteomics	21566225
MIRT048918	hsa-miR-92a-3p	CLASH	23622248
MIRT040525	hsa-miR-92b-3p	CLASH	23622248
MIRT462756	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT462757	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT462755	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT462754	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT462752	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT462753	hsa-miR-4302	PAR-CLIP	23592263
MIRT462751	hsa-miR-1827	PAR-CLIP	23592263
MIRT462750	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT462749	hsa-miR-4721	PAR-CLIP	23592263
MIRT462748	hsa-miR-6134	PAR-CLIP	23592263
MIRT462747	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT462746	hsa-miR-3612	PAR-CLIP	23592263
MIRT462745	hsa-miR-650	PAR-CLIP	23592263
MIRT462744	hsa-miR-3689d	PAR-CLIP	23592263
MIRT462743	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT462742	hsa-miR-1193	PAR-CLIP	23592263
MIRT025289	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT462741	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT462740	hsa-miR-449a	PAR-CLIP	23592263
MIRT462739	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT462738	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT462737	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT462736	hsa-miR-3165	PAR-CLIP	23592263
MIRT462734	hsa-miR-3650	PAR-CLIP	23592263
MIRT462735	hsa-miR-4316	PAR-CLIP	23592263
MIRT462733	hsa-miR-1294	PAR-CLIP	23592263
MIRT462732	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT462731	hsa-miR-3691-5p	PAR-CLIP	23592263
MIRT462730	hsa-miR-3911	PAR-CLIP	23592263
MIRT462729	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT462728	hsa-miR-432-3p	PAR-CLIP	23592263
MIRT462727	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT462730	hsa-miR-3911	HITS-CLIP	27418678
MIRT462756	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT462757	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT462755	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT462754	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT462752	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT462753	hsa-miR-4302	PAR-CLIP	23592263
MIRT462751	hsa-miR-1827	PAR-CLIP	23592263
MIRT462750	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT462749	hsa-miR-4721	PAR-CLIP	23592263
MIRT462748	hsa-miR-6134	PAR-CLIP	23592263
MIRT462747	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT462746	hsa-miR-3612	PAR-CLIP	23592263
MIRT462745	hsa-miR-650	PAR-CLIP	23592263
MIRT462744	hsa-miR-3689d	PAR-CLIP	23592263
MIRT462743	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT462742	hsa-miR-1193	PAR-CLIP	23592263
MIRT025289	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT462741	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT462740	hsa-miR-449a	PAR-CLIP	23592263
MIRT462739	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT462738	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT462737	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT462736	hsa-miR-3165	PAR-CLIP	23592263
MIRT462734	hsa-miR-3650	PAR-CLIP	23592263
MIRT462735	hsa-miR-4316	PAR-CLIP	23592263
MIRT462733	hsa-miR-1294	PAR-CLIP	23592263
MIRT462732	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT462731	hsa-miR-3691-5p	PAR-CLIP	23592263
MIRT462730	hsa-miR-3911	PAR-CLIP	23592263
MIRT462729	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT462728	hsa-miR-432-3p	PAR-CLIP	23592263
MIRT462727	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT954189	hsa-miR-1236	CLIP-seq
MIRT954190	hsa-miR-124	CLIP-seq
MIRT954191	hsa-miR-1321	CLIP-seq
MIRT954192	hsa-miR-1343	CLIP-seq
MIRT954193	hsa-miR-1910	CLIP-seq
MIRT954194	hsa-miR-3124-3p	CLIP-seq
MIRT954195	hsa-miR-3126-5p	CLIP-seq
MIRT954196	hsa-miR-3180-5p	CLIP-seq
MIRT954197	hsa-miR-335	CLIP-seq
MIRT954198	hsa-miR-34a	CLIP-seq
MIRT954199	hsa-miR-3682-3p	CLIP-seq
MIRT954200	hsa-miR-3923	CLIP-seq
MIRT954201	hsa-miR-3941	CLIP-seq
MIRT954202	hsa-miR-4266	CLIP-seq
MIRT954203	hsa-miR-4271	CLIP-seq
MIRT954204	hsa-miR-4274	CLIP-seq
MIRT954205	hsa-miR-4419a	CLIP-seq
MIRT954206	hsa-miR-4433	CLIP-seq
MIRT954207	hsa-miR-4435	CLIP-seq
MIRT954208	hsa-miR-4459	CLIP-seq
MIRT954209	hsa-miR-449b	CLIP-seq
MIRT954210	hsa-miR-4510	CLIP-seq
MIRT954211	hsa-miR-4514	CLIP-seq
MIRT954212	hsa-miR-466	CLIP-seq
MIRT954213	hsa-miR-4672	CLIP-seq
MIRT954214	hsa-miR-4692	CLIP-seq
MIRT954215	hsa-miR-4693-3p	CLIP-seq
MIRT954216	hsa-miR-4699-3p	CLIP-seq
MIRT954217	hsa-miR-4716-3p	CLIP-seq
MIRT954218	hsa-miR-4719	CLIP-seq
MIRT954219	hsa-miR-4722-5p	CLIP-seq
MIRT954220	hsa-miR-4725-3p	CLIP-seq
MIRT954221	hsa-miR-4731-3p	CLIP-seq
MIRT954222	hsa-miR-4739	CLIP-seq
MIRT954223	hsa-miR-4747-5p	CLIP-seq
MIRT954224	hsa-miR-4756-5p	CLIP-seq
MIRT954225	hsa-miR-4768-3p	CLIP-seq
MIRT954226	hsa-miR-4779	CLIP-seq
MIRT954227	hsa-miR-4801	CLIP-seq
MIRT954228	hsa-miR-506	CLIP-seq
MIRT954229	hsa-miR-548u	CLIP-seq
MIRT954230	hsa-miR-625	CLIP-seq
MIRT954231	hsa-miR-940	CLIP-seq
MIRT1982564	hsa-miR-1184	CLIP-seq
MIRT1982565	hsa-miR-1290	CLIP-seq
MIRT1982566	hsa-miR-147	CLIP-seq
MIRT1982567	hsa-miR-3190	CLIP-seq
MIRT954198	hsa-miR-34a	CLIP-seq
MIRT954209	hsa-miR-449b	CLIP-seq
MIRT1982568	hsa-miR-599	CLIP-seq
MIRT1982569	hsa-miR-644	CLIP-seq
MIRT1982564	hsa-miR-1184	CLIP-seq
MIRT2217436	hsa-miR-1207-3p	CLIP-seq
MIRT1982565	hsa-miR-1290	CLIP-seq
MIRT1982566	hsa-miR-147	CLIP-seq
MIRT954198	hsa-miR-34a	CLIP-seq
MIRT954209	hsa-miR-449b	CLIP-seq
MIRT1982568	hsa-miR-599	CLIP-seq
MIRT954189	hsa-miR-1236	CLIP-seq
MIRT954211	hsa-miR-4514	CLIP-seq
MIRT2387241	hsa-miR-4651	CLIP-seq
MIRT954214	hsa-miR-4692	CLIP-seq
MIRT2387242	hsa-miR-608	CLIP-seq
MIRT1982565	hsa-miR-1290	CLIP-seq
MIRT1982566	hsa-miR-147	CLIP-seq
MIRT1982568	hsa-miR-599	CLIP-seq
MIRT2521463	hsa-miR-1268	CLIP-seq
MIRT2521464	hsa-miR-1268b	CLIP-seq
MIRT2521465	hsa-miR-3176	CLIP-seq
MIRT2521466	hsa-miR-3922-3p	CLIP-seq
MIRT2521467	hsa-miR-4763-5p	CLIP-seq
MIRT2521468	hsa-miR-585	CLIP-seq
MIRT2521463	hsa-miR-1268	CLIP-seq
MIRT2521464	hsa-miR-1268b	CLIP-seq
MIRT2679837	hsa-miR-1972	CLIP-seq
MIRT2679838	hsa-miR-2355-5p	CLIP-seq
MIRT2679839	hsa-miR-2861	CLIP-seq
MIRT2521465	hsa-miR-3176	CLIP-seq
MIRT2679840	hsa-miR-3679-3p	CLIP-seq
MIRT2521466	hsa-miR-3922-3p	CLIP-seq
MIRT2679841	hsa-miR-4286	CLIP-seq
MIRT2679842	hsa-miR-4733-3p	CLIP-seq
MIRT2679843	hsa-miR-4757-5p	CLIP-seq
MIRT2521467	hsa-miR-4763-5p	CLIP-seq
MIRT2521468	hsa-miR-585	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IEA
GO:0005515	Function	Protein binding	IPI	9883737, 22279592, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8660976
GO:0007155	Process	Cell adhesion	TAS	8798744
GO:0007267	Process	Cell-cell signaling	TAS	8798744
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0009986	Component	Cell surface	IDA	12970314
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031295	Process	T cell costimulation	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	ISS
GO:0046875	Function	Ephrin receptor binding	IBA
GO:0046875	Function	Ephrin receptor binding	IDA	23711177
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0046875	Function	Ephrin receptor binding	TAS	8798744
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098978	Component	Glutamatergic synapse	IBA
GO:2000785	Process	Regulation of autophagosome assembly	IDA	33280498

Other IDs

• MIM: 300035
• HGNC: 3226
• e!Ensembl: ENSG00000090776

Protein

• UniProt ID: P98172
• Protein name: Ephrin-B1 (EFL-3) (ELK ligand) (ELK-L) (EPH-related receptor tyrosine kinase ligand 2) (LERK-2) [Cleaved into: Ephrin-B1 C-terminal fragment (Ephrin-B1 CTF); Ephrin-B1 intracellular domain (Ephrin-B1 ICD)]
• Protein function: Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:7973638, PubMed:8070404). Binding to
• PDB: 6THG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00812	Ephrin	30 → 164	Ephrin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:7973638, PubMed:8070404). Detected in both neuronal and non-neuronal tissues (PubMed:7973638, PubMed:8070404). Seems to have particularly strong expression in retina, sciatic nerve, heart and spinal cord (PubMe
• Sequence:

  MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKFLSGKGLVIYPKIGDKL
  DIICPRAEAGRPYEYYKLYLVRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPN
  YMGLEFKKHHDYYITSTSNGSLEGLENREGGVCRTRTMKIIMKVGQDPNAVTPEQLTTSR
  PSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKSGPGASGGSSGDPDGFFNSKVAL
  FAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAALSLSTLASPKGGSGTAGTEPS
  DIIIPLRTTENNYCPHYEKVSGDYGHPVYIVQEMPPQSPANIYYKV

• Sequence length: 346

Pathways

KEGG:

Axon guidance

Reactome:

EPH-Ephrin signaling
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells

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
Craniofrontonasal syndrome	Pathogenic; Likely pathogenic	rs587777109, rs2147973166, rs2147976769, rs2147973177, rs2520012737, rs2520012797, rs879255545, rs104894796, rs104894801, rs28936069, rs28936070, rs28936071, rs28935170, rs104894802, rs104894803, rs104894804, rs2520005872, rs2520012780, rs2519539191, rs2147976566, rs1057519033, rs1057519035, rs1556096780, rs1556105849, rs1556107856, rs1556107925, rs1556107481, rs1602671282, rs2080468871, rs2080471528, rs2080439314, rs2080468583, rs2080473382	RCV000087027 RCV001783192 RCV002249040 RCV002250863 RCV002467388 RCV002512506 RCV003226122 RCV000012473 RCV000012474 RCV000012475 RCV000012476 RCV000012477 RCV000012478 RCV000012479 RCV000012480 RCV000012481 RCV003316893 RCV003444084 RCV004555027 RCV004560500 RCV004594949 RCV000415481 RCV000415511 RCV000502211 RCV000503680 RCV000502264 RCV000500583 RCV000677734 RCV000984626 RCV001250921 RCV001174989 RCV001194644 RCV001263204 RCV001263202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EFNB1-related disorder	Likely pathogenic	rs1482772814	RCV003404510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2147976566	RCV005933657	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFRONTONASAL DYSPLASIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSOSTOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocephaly	Acrocephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12136247		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22723427, 25258252		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29079839		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	17941886		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18092944		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19728339		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18092944		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24919122		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34544797	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22279592, 24240587, 26673618, 34544797	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22723427, 25258252		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25012246	Associate	★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	17941886		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12408869		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33525395	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	16639408, 18043713, 20734337, 21782985, 30469162		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	30469162		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	29215649		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	BEFREE	15124102, 15166289, 15959873, 16143553, 16526919, 16639408, 16685650, 17300690, 17941886, 18043713, 20565770, 20734337, 21385071, 21542058, 23335590, 23614707, 23845783, 24281372, 24376213, 28135115, 28140668, 28238796, 31285555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	GENOMICS_ENGLAND_DG	15124102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	ORPHANET_DG	15124102, 15166289, 15959873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	CTD_human_DG	15124102, 15166289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	UNIPROT_DG	15124102, 15166289, 15959873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal dysplasia	Pubtator	15124102, 16685650, 20565770, 23335590, 28238796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostoses	Craniosynostosis	Pubtator	27884935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	15166289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	17621648, 21082653, 24376213, 26208246, 28135115, 29561715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	12136247	Stimulate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	CTD_human_DG	15166289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	23335590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	19728339		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19728339	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19728339		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	17941886		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30262919		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	30262919		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30058095	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17941886		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29602834		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20061560		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20061560	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14642617		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14642617		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24240587	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30058095		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12136247		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22723427, 25258252		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22723427, 25258252	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35871080	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17941886		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke syndrome	Pubtator	29215649, 30651579	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15124102, 15166289, 15363810, 15959873, 16143553, 16685650, 23335590, 24281372, 25486017, 26180728, 28140668, 8669441		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	28877219	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14642617, 30006524		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	24098442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	12209731		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12209731	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12960427	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30058095		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30058095	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17942634		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25779027		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	29215649, 30651579		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12136247		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12136247		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12136247	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	15994237	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27986811	Associate	★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	15166289		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24240587	Stimulate	★☆☆☆☆ Found in Text Mining only