GPHN (gephyrin)

Gene

• Entrez ID: 10243
• Gene name: Gephyrin
• Gene symbol: GPHN
• Synonyms (NCBI Gene): GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Chromosome: 14
• Chromosome location: 14q23.3-q24.1
• Summary: This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is als

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908539	A>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs150226537	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052292	hsa-let-7b-5p	CLASH	23622248
MIRT1029288	hsa-miR-1271	CLIP-seq
MIRT1029289	hsa-miR-138	CLIP-seq
MIRT1029290	hsa-miR-141	CLIP-seq
MIRT1029291	hsa-miR-182	CLIP-seq
MIRT1029292	hsa-miR-200a	CLIP-seq
MIRT1029293	hsa-miR-3133	CLIP-seq
MIRT1029294	hsa-miR-3607-3p	CLIP-seq
MIRT1029295	hsa-miR-3671	CLIP-seq
MIRT1029296	hsa-miR-3686	CLIP-seq
MIRT1029297	hsa-miR-3692	CLIP-seq
MIRT1029298	hsa-miR-4328	CLIP-seq
MIRT1029299	hsa-miR-4422	CLIP-seq
MIRT1029300	hsa-miR-4490	CLIP-seq
MIRT1029301	hsa-miR-4659a-3p	CLIP-seq
MIRT1029302	hsa-miR-4659b-3p	CLIP-seq
MIRT1029303	hsa-miR-4778-3p	CLIP-seq
MIRT1029304	hsa-miR-539	CLIP-seq
MIRT1029305	hsa-miR-548p	CLIP-seq
MIRT1029306	hsa-miR-584	CLIP-seq
MIRT1029307	hsa-miR-607	CLIP-seq
MIRT1029308	hsa-miR-622	CLIP-seq
MIRT1029309	hsa-miR-889	CLIP-seq
MIRT1029310	hsa-miR-96	CLIP-seq
MIRT1029311	hsa-miR-3065-3p	CLIP-seq
MIRT1029312	hsa-miR-4477b	CLIP-seq
MIRT1029301	hsa-miR-4659a-3p	CLIP-seq
MIRT1029302	hsa-miR-4659b-3p	CLIP-seq
MIRT1549346	hsa-miR-1184	CLIP-seq
MIRT1549347	hsa-miR-1205	CLIP-seq
MIRT1549348	hsa-miR-1909	CLIP-seq
MIRT1549349	hsa-miR-3158-5p	CLIP-seq
MIRT1549350	hsa-miR-3194-3p	CLIP-seq
MIRT1549351	hsa-miR-4292	CLIP-seq
MIRT1549352	hsa-miR-4308	CLIP-seq
MIRT1549346	hsa-miR-1184	CLIP-seq
MIRT1549347	hsa-miR-1205	CLIP-seq
MIRT2005401	hsa-miR-145	CLIP-seq
MIRT2005402	hsa-miR-198	CLIP-seq
MIRT2005403	hsa-miR-3143	CLIP-seq
MIRT1549349	hsa-miR-3158-5p	CLIP-seq
MIRT1029295	hsa-miR-3671	CLIP-seq
MIRT1029297	hsa-miR-3692	CLIP-seq
MIRT1029301	hsa-miR-4659a-3p	CLIP-seq
MIRT1029302	hsa-miR-4659b-3p	CLIP-seq
MIRT2005404	hsa-miR-511	CLIP-seq
MIRT2005405	hsa-miR-543	CLIP-seq
MIRT1029307	hsa-miR-607	CLIP-seq
MIRT1029308	hsa-miR-622	CLIP-seq
MIRT2005406	hsa-miR-935	CLIP-seq
MIRT1549346	hsa-miR-1184	CLIP-seq
MIRT1549347	hsa-miR-1205	CLIP-seq
MIRT1549349	hsa-miR-3158-5p	CLIP-seq
MIRT2238012	hsa-miR-330-3p	CLIP-seq
MIRT2238013	hsa-miR-4269	CLIP-seq
MIRT2238014	hsa-miR-4731-3p	CLIP-seq
MIRT2238015	hsa-miR-4801	CLIP-seq
MIRT2238016	hsa-miR-544	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	21094642, 26613940, 27173435, 32296183, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	22270318
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IBA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IDA	26613940
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IMP	9990024
GO:0007416	Process	Synapse assembly	IEA
GO:0007529	Process	Establishment of synaptic specificity at neuromuscular junction	IBA
GO:0008940	Function	Nitrate reductase activity	IMP	9990024
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0010038	Process	Response to metal ion	IMP	9990024
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IDA	26613940
GO:0030425	Component	Dendrite	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	25025157
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IDA	25025157
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0043546	Function	Molybdopterin cofactor binding	IDA	9990024
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IDA	25025157
GO:0045211	Component	Postsynaptic membrane	IDA	26613940
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	14993607, 23909897
GO:0051932	Process	Synaptic transmission, GABAergic	ISS
GO:0060077	Component	Inhibitory synapse	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0061598	Function	Molybdopterin adenylyltransferase activity	IEA
GO:0061598	Function	Molybdopterin adenylyltransferase activity	ISS	23163752
GO:0061599	Function	Molybdopterin molybdotransferase activity	IBA
GO:0061599	Function	Molybdopterin molybdotransferase activity	IEA
GO:0061599	Function	Molybdopterin molybdotransferase activity	ISS	23163752
GO:0072579	Process	Glycine receptor clustering	IBA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0097060	Component	Synaptic membrane	IDA	25025157
GO:0097060	Component	Synaptic membrane	ISS
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	IBA
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	IDA	26613940
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	IMP	25025157
GO:0098690	Component	Glycinergic synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099091	Component	Postsynaptic specialization, intracellular component	IEA
GO:0099572	Component	Postsynaptic specialization	IBA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA

Other IDs

• MIM: 603930
• HGNC: 15465
• e!Ensembl: ENSG00000171723

Protein

• UniProt ID: Q9NQX3
• Protein name: Gephyrin [Includes: Molybdopterin adenylyltransferase (MPT adenylyltransferase) (EC 2.7.7.75) (Domain G); Molybdopterin molybdenumtransferase (MPT Mo-transferase) (EC 2.10.1.1) (Domain E)]
• Protein function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory
• PDB: 1JLJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00994	MoCF_biosynth	18 → 164	Probable molybdopterin binding domain	Domain
  PF03453	MoeA_N	324 → 489	MoeA N-terminal region (domain I and II)	Family
  PF00994	MoCF_biosynth	502 → 645	Probable molybdopterin binding domain	Domain
  PF03454	MoeA_C	658 → 733	MoeA C-terminal region (domain IV)	Domain

• Sequence:

  MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVP
  DEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSL
  NVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVH
  DELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAI
  AAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL
  RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVY
  AKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG
  ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPS
  EIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYP
  TINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF
  MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKAR
  LSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYV
  ELHKGEVVDVMVIGRL

• Sequence length: 736

Pathways

KEGG:

Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors
GABAergic synapse

Reactome:

Molybdenum cofactor biosynthesis

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
Hepatocellular carcinoma	Likely pathogenic	rs2082439915	RCV005913536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs2066910297	RCV001078183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Pathogenic; Likely pathogenic	rs2153668269, rs2153561495, rs533003321, rs2153685300, rs2153668310, rs2140003018, rs2153717733, rs2061323841, rs2543059971, rs2549619766, rs2543060389, rs2549068048, rs1214630241, rs2549615369, rs2543402851, rs2549619648, rs2549068250, rs2543059711, rs2549284450, rs2543525337, rs2549615253, rs2549597698, rs2543395293, rs1352910925, rs2543230821, rs2543402379, rs2543888962, rs2549615601, rs2542172605, rs2549782519, rs2549499286, rs2543402445, rs1595241291, rs2082439915, rs2066910297, rs397518420, rs2077665118	RCV001380809 RCV003771985 RCV001823444 RCV002024387 RCV001941687 RCV002050084 RCV001994508 RCV001949542 RCV003062639 RCV002861720 RCV002825508 RCV002861595 RCV002862648 RCV002867008 RCV002899166 RCV002885319 RCV002957360 RCV002937103 RCV003007806 RCV003015783 RCV003019403 RCV003025285 RCV003506036 RCV003506252 RCV003506554 RCV003505588 RCV003505631 RCV003505574 RCV003505739 RCV003616586 RCV003616660 RCV003616823 RCV000808752 RCV001057847 RCV003883166 RCV000074361 RCV004799488	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2140003018	RCV005922829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARACHNOID CYSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL PALSY	—	Disgenet	★★☆☆☆ 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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPHN-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HYPEREKPLEXIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HYPEREXPLEXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperekplexia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperekplexia 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPEREXPLEXIA HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 53	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA, JUVENILE CATARACT, SHORT STATURE, INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; 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	11289145		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31239782		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	8881451		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	14991527		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18615734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	18615734	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety Disorder	BEFREE	18615734		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25866352		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23275889, 32081867	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23393157, 24561070, 25866352, 31356900		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23393157, 27805570		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37817707, 38048114	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26613940, 37817707	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31448377		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	12684523, 23393157		★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	26613940	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18615734, 21071388, 23393157, 24561070, 29130122		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	18615734	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	21071388, 23393157, 31356900		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26613940		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	26613940		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25866352		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hyperekplexia	Hereditary Hyperekplexia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Hyperexplexia	Hyperekplexia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	24561070		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	26613940		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	11579461, 14751928		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	31164008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31448377		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30411419		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	37817707	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	21807943		★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum Cofactor Deficiency	UNIPROT_DG	11095995, 22040219, 26613940		★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum Cofactor Deficiency	GENOMICS_ENGLAND_DG	23393157, 27604308		★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum Cofactor Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum Cofactor Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum Cofactor Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23393157, 24561070, 25866352, 30258351, 30411419		★☆☆☆☆ Found in Text Mining only
Nocturnal epilepsy	Nocturnal Epilepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24561070		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23393157, 28073605, 31356900		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31239782		★☆☆☆☆ Found in Text Mining only
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Sulfite Oxidase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only