MNX1 (motor neuron and pancreas homeobox 1)

Gene

• Entrez ID: 3110
• Gene name: Motor neuron and pancreas homeobox 1
• Gene symbol: MNX1
• Synonyms (NCBI Gene): HB9, HLXB9, HOXHB9, SCRA1
• Chromosome: 7
• Chromosome location: 7q36.3
• Summary: This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding dif

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027276	hsa-miR-101-3p	Sequencing	20371350
MIRT506572	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT027276	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT506571	hsa-miR-548u	PAR-CLIP	20371350
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT506569	hsa-miR-4328	PAR-CLIP	20371350
MIRT506568	hsa-miR-4530	PAR-CLIP	20371350
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT506566	hsa-miR-5186	PAR-CLIP	20371350
MIRT506565	hsa-miR-2052	PAR-CLIP	20371350
MIRT506564	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT506561	hsa-miR-887-3p	PAR-CLIP	20371350
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT506559	hsa-miR-8055	PAR-CLIP	20371350
MIRT506572	hsa-miR-338-3p	PAR-CLIP	23446348
MIRT027276	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT506571	hsa-miR-548u	PAR-CLIP	23446348
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT506569	hsa-miR-4328	PAR-CLIP	23446348
MIRT506568	hsa-miR-4530	PAR-CLIP	23446348
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT506566	hsa-miR-5186	PAR-CLIP	23446348
MIRT506565	hsa-miR-2052	PAR-CLIP	23446348
MIRT506564	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	23446348
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	23446348
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT506559	hsa-miR-8055	PAR-CLIP	23446348
MIRT506572	hsa-miR-338-3p	PAR-CLIP	23446348
MIRT027276	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT506571	hsa-miR-548u	PAR-CLIP	23446348
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT506569	hsa-miR-4328	PAR-CLIP	23446348
MIRT506568	hsa-miR-4530	PAR-CLIP	23446348
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT506566	hsa-miR-5186	PAR-CLIP	23446348
MIRT506565	hsa-miR-2052	PAR-CLIP	23446348
MIRT506564	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	23446348
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	23446348
MIRT506561	hsa-miR-887-3p	PAR-CLIP	23446348
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT506559	hsa-miR-8055	PAR-CLIP	23446348
MIRT506572	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT027276	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT506571	hsa-miR-548u	PAR-CLIP	20371350
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT506569	hsa-miR-4328	PAR-CLIP	20371350
MIRT506568	hsa-miR-4530	PAR-CLIP	20371350
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT506566	hsa-miR-5186	PAR-CLIP	20371350
MIRT506565	hsa-miR-2052	PAR-CLIP	20371350
MIRT506564	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT506561	hsa-miR-887-3p	PAR-CLIP	20371350
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT506559	hsa-miR-8055	PAR-CLIP	20371350
MIRT506572	hsa-miR-338-3p	PAR-CLIP	23446348
MIRT027276	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT506571	hsa-miR-548u	PAR-CLIP	23446348
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT506569	hsa-miR-4328	PAR-CLIP	23446348
MIRT506568	hsa-miR-4530	PAR-CLIP	23446348
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT506566	hsa-miR-5186	PAR-CLIP	23446348
MIRT506565	hsa-miR-2052	PAR-CLIP	23446348
MIRT506564	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	23446348
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	23446348
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT506559	hsa-miR-8055	PAR-CLIP	23446348
MIRT506572	hsa-miR-338-3p	PAR-CLIP	23446348
MIRT027276	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT506571	hsa-miR-548u	PAR-CLIP	23446348
MIRT506570	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT506569	hsa-miR-4328	PAR-CLIP	23446348
MIRT506568	hsa-miR-4530	PAR-CLIP	23446348
MIRT506567	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT506566	hsa-miR-5186	PAR-CLIP	23446348
MIRT506565	hsa-miR-2052	PAR-CLIP	23446348
MIRT506564	hsa-miR-582-5p	PAR-CLIP	23446348
MIRT506563	hsa-miR-6512-3p	PAR-CLIP	23446348
MIRT506562	hsa-miR-6720-5p	PAR-CLIP	23446348
MIRT506561	hsa-miR-887-3p	PAR-CLIP	23446348
MIRT506560	hsa-miR-3180-5p	PAR-CLIP	23446348
MIRT506559	hsa-miR-8055	PAR-CLIP	23446348
MIRT1154074	hsa-miR-1184	CLIP-seq
MIRT1154075	hsa-miR-1205	CLIP-seq
MIRT1154076	hsa-miR-1297	CLIP-seq
MIRT1154077	hsa-miR-224	CLIP-seq
MIRT1154078	hsa-miR-26a	CLIP-seq
MIRT1154079	hsa-miR-26b	CLIP-seq
MIRT1154080	hsa-miR-298	CLIP-seq
MIRT1154081	hsa-miR-3158-5p	CLIP-seq
MIRT1154082	hsa-miR-3664-5p	CLIP-seq
MIRT1154083	hsa-miR-4465	CLIP-seq
MIRT1154084	hsa-miR-4467	CLIP-seq
MIRT1154085	hsa-miR-4714-5p	CLIP-seq
MIRT1154086	hsa-miR-498	CLIP-seq
MIRT1154087	hsa-miR-520a-5p	CLIP-seq
MIRT1154088	hsa-miR-525-5p	CLIP-seq
MIRT1154089	hsa-miR-181a	CLIP-seq
MIRT1154090	hsa-miR-181b	CLIP-seq
MIRT1154091	hsa-miR-181c	CLIP-seq
MIRT1154092	hsa-miR-181d	CLIP-seq
MIRT1154093	hsa-miR-3677-3p	CLIP-seq
MIRT1154094	hsa-miR-4262	CLIP-seq
MIRT1154095	hsa-miR-4434	CLIP-seq
MIRT1154096	hsa-miR-4516	CLIP-seq
MIRT1154097	hsa-miR-4649-5p	CLIP-seq
MIRT1154098	hsa-miR-548aa	CLIP-seq
MIRT1154076	hsa-miR-1297	CLIP-seq
MIRT1154078	hsa-miR-26a	CLIP-seq
MIRT1154079	hsa-miR-26b	CLIP-seq
MIRT1154083	hsa-miR-4465	CLIP-seq
MIRT2273454	hsa-miR-101	CLIP-seq
MIRT1154076	hsa-miR-1297	CLIP-seq
MIRT2273455	hsa-miR-141	CLIP-seq
MIRT2273456	hsa-miR-200a	CLIP-seq
MIRT1154077	hsa-miR-224	CLIP-seq
MIRT1154078	hsa-miR-26a	CLIP-seq
MIRT1154079	hsa-miR-26b	CLIP-seq
MIRT2273457	hsa-miR-370	CLIP-seq
MIRT2273458	hsa-miR-3917	CLIP-seq
MIRT2273459	hsa-miR-4318	CLIP-seq
MIRT1154083	hsa-miR-4465	CLIP-seq
MIRT1154084	hsa-miR-4467	CLIP-seq
MIRT2273460	hsa-miR-4690-3p	CLIP-seq
MIRT2273461	hsa-miR-4731-5p	CLIP-seq
MIRT2273462	hsa-miR-4783-5p	CLIP-seq
MIRT1154086	hsa-miR-498	CLIP-seq
MIRT1154087	hsa-miR-520a-5p	CLIP-seq
MIRT1154088	hsa-miR-525-5p	CLIP-seq
MIRT2273463	hsa-miR-629	CLIP-seq
MIRT2273464	hsa-miR-718	CLIP-seq
MIRT2273465	hsa-miR-887	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IBA
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0031018	Process	Endocrine pancreas development	IBA
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 142994
• HGNC: 4979
• e!Ensembl: ENSG00000130675

Protein

• UniProt ID: P50219
• Protein name: Motor neuron and pancreas homeobox protein 1 (Homeobox protein HB9)
• Protein function: Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	242 → 298	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lymphoid and pancreatic tissues.
• Sequence:

  MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSP
  ASSEPPAAPADRLRAESPSPPRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPG
  AAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYGHPVYGYSAAAAAAALAGQHP
  ALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
  CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSK
  KAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDE
  DEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAPQ

• Sequence length: 401

Pathways

KEGG:

Maturity onset diabetes of the young

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
Abnormality of the vertebral column	Likely pathogenic	rs2537771120	RCV005235716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Currarino triad	Likely pathogenic; Pathogenic	rs2134838779, rs2134846165, rs2134838783, rs2134846330, rs2537780168, rs121912546, rs2537781329, rs121912547, rs1563700090, rs1563700419, rs121912548, rs121912549, rs1554594329	RCV002245297 RCV002250119 RCV002273111 RCV002273137 RCV000015975 RCV000015976 RCV000015977 RCV000015978 RCV000015980 RCV000015981 RCV000015982 RCV000015984 RCV000504393	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MNX1-related disorder	Likely pathogenic	rs2537780127, rs2537773911, rs2537771120	RCV003402535 RCV003397530 RCV003420920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CURRARINO SYNDROME	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	18940475		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	LHGDN	18940475		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	15540222		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	29569294		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15772702		★☆☆☆☆ Found in Text Mining only
Altman type IV sacrococcygeal teratoma	Sacrococcygeal teratoma	BEFREE	22212327		★☆☆☆☆ Found in Text Mining only
Altman type IV sacrococcygeal teratoma	Sacrococcygeal teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22047141		★☆☆☆☆ Found in Text Mining only
Anal Fistula	Anal Fistula	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30012177		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30368216, 30697072		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35697697	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38203393	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15161049	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21484430	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36476366	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	35697697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30012177		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29271994, 29678219	Associate	★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	12738808, 16291141, 16498628, 24095820, 9843207		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31436258		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31436258		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	29569294		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22374828		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30614606		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	14663834		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	24287836	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	16498628		★☆☆☆☆ Found in Text Mining only
Currarino syndrome	Currarino Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Currarino triad	Currarino Triad	UNIPROT_DG	10631160, 10749657, 19853743, 22820079		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino Triad	BEFREE	10749657, 10922380, 11528505, 14663834, 15211664, 16254195, 16498628, 17183586, 17560192, 17612791, 18449898, 19853743, 21763840, 21915987, 22212327, 22820079, 23370340, 23466002, 24095820, 27549440, 28689883, 29401559		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino Triad	GENOMICS_ENGLAND_DG	16906559, 23562494, 7550324		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino syndrome	Pubtator	19838731, 22212327, 24287836, 25136833, 29401559, 32571425, 34509159	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino Triad	ORPHANET_DG	22820079, 23370340		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino Triad	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Currarino triad	Currarino Triad	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	29061174	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12738808, 26534984, 29309627		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12738808, 26534984, 29309627, 31726413		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	34509159	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	23562494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine System Diseases	BEFREE	29309627		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26857264, 31170665	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36429006	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29678219, 30821221	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30821221		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30821221		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30066929	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21069786		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	31730496	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	17183586		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15772702		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	15772702		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	10852374, 15211664		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	23419452, 24425879, 29309627		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25691298		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31416476	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15540222, 16646086, 18940475, 21069786, 25136833, 28965118		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23048027, 35583991	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11454678, 15540222, 18940475, 19446746, 23048027, 29569294		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21484430		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30821221	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31436258	Stimulate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30368216, 30697072		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27578002, 28611045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30012177		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27578002, 28611045		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31436258		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30697072		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22374828		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19838731		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	19838731	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	16646086		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31726413		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	23562494, 24411943, 29309627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG	23562494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	21069786, 30368216		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25136833		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25136833	Associate	★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31364121, 31646549	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29271994, 34789303, 35639251	Associate	★☆☆☆☆ Found in Text Mining only
Perianal abscess	Perianal abscess	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27578002, 28611045		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30980513	Associate	★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	10329000		★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	BEFREE	12738808, 19853743, 24095820, 9843207		★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	24287836, 25136833	Associate	★☆☆☆☆ Found in Text Mining only
Sacrococcygeal teratoma	Sacrococcygeal teratoma	BEFREE	22212327		★☆☆☆☆ Found in Text Mining only
Sacrococcygeal teratoma	Sacrococcygeal teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26857264, 30821221, 31210302, 35831348	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	14663834		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	36429006	Associate	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30821221	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31436258	Stimulate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only