Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8929
Gene name	Paired like homeobox 2B
Gene symbol	PHOX2B
Synonyms (NCBI Gene)	CCHSNBLST2NBPhoxPMX2B
Chromosome	4
Chromosome location	4p13
Summary	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations a

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17879189	TGCCGCCGCCGCCGCTGCCGC>-,TGCCGCCGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGC	Pathogenic, benign, likely-benign	Inframe insertion, coding sequence variant, inframe deletion
rs104893856	C>T	Risk-factor	Missense variant, coding sequence variant
rs587776626	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs761018157	TGCCGCTGCCGCCGC>-,TGCCGCTGCCGCCGCTGCCGCTGCCGCCGC	Pathogenic, likely-benign, benign	Coding sequence variant, inframe insertion, inframe deletion
rs772448418	CGCGGCCGCCGCCGCTGCTGC>-,CGCGGCCGCCGCCGCTGCTGCCGCGGCCGCCGCCGCTGCTGC	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs775006915	TGCCGCGGCCGCCGC>-,TGCCGCGGCCGCCGCTGCCGCGGCCGCCGC	Pathogenic, benign, benign-likely-benign, likely-benign	Coding sequence variant, inframe deletion, inframe insertion
rs779557320	CGCCGCCGCTGCCGC>-,CGCCGCCGCTGCCGCCGCCGCCGCTGCCGC	Likely-benign, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553897738	T>C	Likely-pathogenic	Stop lost, terminator codon variant

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT756035	hsa-miR-99b-5p	Luciferase reporter assayWestern blottingqRT-PCRImmunohistochemistry (IHC)RNA-seq	34998954
MIRT1232401	hsa-miR-1224-5p	CLIP-seq
MIRT1232402	hsa-miR-1275	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT1232404	hsa-miR-138	CLIP-seq
MIRT1232405	hsa-miR-3165	CLIP-seq
MIRT1232406	hsa-miR-3179	CLIP-seq
MIRT1232407	hsa-miR-3185	CLIP-seq
MIRT1232408	hsa-miR-3190	CLIP-seq
MIRT1232409	hsa-miR-3202	CLIP-seq
MIRT1232410	hsa-miR-3915	CLIP-seq
MIRT1232411	hsa-miR-3928	CLIP-seq
MIRT1232412	hsa-miR-4260	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232414	hsa-miR-4456	CLIP-seq
MIRT1232415	hsa-miR-4476	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT1232417	hsa-miR-4665-5p	CLIP-seq
MIRT1232418	hsa-miR-4689	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT1232420	hsa-miR-7	CLIP-seq
MIRT2068264	hsa-miR-1184	CLIP-seq
MIRT2068265	hsa-miR-1301	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT2068266	hsa-miR-337-5p	CLIP-seq
MIRT2068267	hsa-miR-3918	CLIP-seq
MIRT2068268	hsa-miR-4267	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT2068269	hsa-miR-4660	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT2068270	hsa-miR-5047	CLIP-seq
MIRT2068271	hsa-miR-518a-5p	CLIP-seq
MIRT2068272	hsa-miR-527	CLIP-seq
MIRT2068273	hsa-miR-766	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq

Show/Hide all (83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	16280598
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16144830
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	16144830, 32094113
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	ISS
GO:0003357	Process	Noradrenergic neuron differentiation	IC	19573018
GO:0003357	Process	Noradrenergic neuron differentiation	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	ISS
GO:0003358	Process	Noradrenergic neuron development	IEA
GO:0003358	Process	Noradrenergic neuron development	ISS
GO:0003360	Process	Brainstem development	IEP	12640453
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	32094113
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	ISS
GO:0014823	Process	Response to activity	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IEA
GO:0021533	Process	Cell differentiation in hindbrain	ISS
GO:0021723	Process	Medullary reticular formation development	IEA
GO:0021723	Process	Medullary reticular formation development	ISS
GO:0021934	Process	Hindbrain tangential cell migration	IEA
GO:0021934	Process	Hindbrain tangential cell migration	ISS
GO:0030182	Process	Neuron differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16144830, 16280598
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19573018
GO:0048468	Process	Cell development	IEA
GO:0048483	Process	Autonomic nervous system development	IMP	12640453
GO:0048484	Process	Enteric nervous system development	IBA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048484	Process	Enteric nervous system development	IEP	12640453
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048486	Process	Parasympathetic nervous system development	IEA
GO:0048486	Process	Parasympathetic nervous system development	ISS
GO:0048666	Process	Neuron development	IBA
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0048894	Process	Efferent axon development in a lateral line nerve	IEA
GO:0048894	Process	Efferent axon development in a lateral line nerve	ISS
GO:0051899	Process	Membrane depolarization	IEA
GO:0060541	Process	Respiratory system development	IEA
GO:0060541	Process	Respiratory system development	ISS
GO:0061452	Process	Retrotrapezoid nucleus neuron differentiation	IEA
GO:0061452	Process	Retrotrapezoid nucleus neuron differentiation	ISS
GO:0061549	Process	Sympathetic ganglion development	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0071244	Process	Cellular response to carbon dioxide	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IC	19573018
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0097475	Process	Motor neuron migration	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21977017
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	IEA
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	ISS
GO:1904691	Process	Negative regulation of type B pancreatic cell proliferation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536, 32094113
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
603851	9143	ENSG00000109132

Q99453

Protein name

Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)

Protein function

Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation o

PDB

7MJA , 8EK5 , 8P7G , 8PTL , 8PUI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	99 → 155	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in neuroblastoma, brain and adrenal gland.

Sequence

MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
PNGAKAALVKSSMF

Sequence length

314

Interactions

View interactions

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)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aganglionic megacolon	Likely pathogenic	rs1560465785	RCV000736042	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Pathogenic; Likely pathogenic	rs2552096795, rs2552096800, rs2552096816, rs2552096861, rs2552097023, rs2552096841, rs17879189, rs779557320, rs772448418, rs1733868277, rs771383153	RCV003224715 RCV003224717 RCV003224853 RCV003484591 RCV003991327 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation	Pathogenic; Likely pathogenic	rs1733947320, rs2153112779, rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366, rs757020181, rs771383153, rs2153113037	RCV001331147 RCV001808261 RCV000006380 RCV000006381 RCV001089949 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation syndrome, with or without Hirschsprung disease	Likely pathogenic	rs1733945703	RCV001265573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Haddad syndrome	Pathogenic; Likely pathogenic	rs2153112779, rs1310852326, rs2153113084, rs2153113036, rs2552097044, rs753545181, rs775101470, rs2552096897, rs2552097168, rs1297909281, rs587776626, rs1733941453, rs73810366	RCV001385104 RCV001953671 RCV001958700 RCV002048499 RCV003633665 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1733947320, rs2153112779, rs1733881278, rs2153113084, rs2552097014, rs2552097009, rs2552097010, rs2552097008, rs2552096903, rs1733894573, rs2552096836, rs2552096877, rs754725361, rs1733876864, rs2552096778 View all (26 more)	RCV002438761 RCV002368223 RCV002386561 RCV002388933 RCV002357526 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hirschsprung disease-ganglioneuroblastoma syndrome	Pathogenic	rs28939716, rs2552096838	RCV000006383 RCV000006384	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma, susceptibility to, 2	Pathogenic; Likely pathogenic	rs1553897738, rs2153113036, rs2552096795, rs2552096800, rs2552096816, rs2552096830, rs17879189, rs779557320, rs1733868277	RCV001334195 RCV003475293 RCV003224715 RCV003224717 RCV003224853 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHOX2B-related disorder	Pathogenic; Likely pathogenic	rs2153112779, rs1733881278, rs2153113036, rs2552096799, rs1733878065, rs2552096826, rs2552096835, rs761018157, rs17879189, rs779557320, rs757020181	RCV004753303 RCV004753390 RCV003893084 RCV004753556 RCV003415666 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME	—	CTD, Orphanet CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE, GANGLIONEUROBLASTOMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Benign; Uncertain significance; Likely benign	ClinVar CTD, Orphanet CTD, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Predisposition to neuroblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	23106811, 30468801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	17270534		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	23329364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	16763219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27651445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27651445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	23873030, 28633714, 30092902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	15657873, 15901893, 16249188, 17541758, 19011468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	30603901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35763016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	25886294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24381123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	CTD_human_DG	12640453, 14608649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	BEFREE	18230845, 21286029, 21373876, 24135798		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Apnea	Apnea	BEFREE	18198276, 19712905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35763016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	28371199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	23536260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	BEFREE	25085640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	12086152, 12640453, 14566559, 14608649, 14739359, 15024693, 15150159, 15185974, 15334515, 15657873, 15888479, 15901893, 15930201, 15949893, 16054879 View all (101 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation	Congenital Central Hypoventilation	UNIPROT_DG	12640453, 14566559, 15657873		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation	Congenital Central Hypoventilation	CTD_human_DG	12640453, 14608649		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation	Congenital Central Hypoventilation	CLINVAR_DG	12640453, 14566559, 14608649, 15334515, 20208042, 26063465		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation	Congenital Central Hypoventilation	GENOMICS_ENGLAND_DG	12640453, 15024693, 16691592		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	15024693, 15185974, 15531561, 17264323, 17282973, 17765533, 17909190, 20676341, 21256194, 21286029, 22071890, 23342068, 23572305, 23597545, 23873030 View all (44 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	18658083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28422456, 29543228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29543228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	CTD_human_DG	17435756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	18580884, 19262523, 21206965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	17435756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	17435756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30799307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	36541215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	31019703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular disease	Pubtator	31019703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	31019703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	Pubtator	31019703	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	15901893, 16249188, 17541758, 18579454, 20601214, 21830319, 23342068, 29704303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25085640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	28992836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	15735672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	28986989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31019703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21962230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Haddad syndrome	Haddad Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart Defects Congenital	Congenital heart defect	Pubtator	29543228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
hereditary neuroblastoma	Neuroblastoma	BEFREE	15516980, 15949893, 17637745, 18292934, 22673527, 29589100, 31515834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	12086152, 12631670, 12919134, 14566559, 15024693, 15653965, 15735672, 15901893, 15930201, 15949893, 16249188, 16443855, 16888290, 17270534, 17637745 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	12631670, 15024693, 17765533, 20459765, 22648184, 23342068, 28371199, 28433712, 28464318, 30518452, 30799307, 30999961, 31767031, 33983112	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	12919134, 17440194, 18438890		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease ganglioneuroblastoma	Hirschsprung Disease Ganglioneuroblastoma	ORPHANET_DG	28371199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung disease ganglioneuroblastoma	Hirschsprung Disease Ganglioneuroblastoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung disease ganglioneuroblastoma	Hirschsprung Disease Ganglioneuroblastoma	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung disease-ganglioneuroblastoma syndrome	Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercapnia	Hypercapnia	Pubtator	17909190, 33047879, 37185129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28633714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15531561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	17435756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18580884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	31019703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23873030, 30117275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29758594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23460545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	BEFREE	16443855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15657873, 15949893, 16691592, 18292934, 18949361, 19011468, 19608868, 20208042, 22790854, 23754957, 25882494, 26145533, 26375764, 26840262, 28464318, 28986989, 29758594, 31515834 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	20054657, 28640941, 31652452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	ORPHANET_DG	15024693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	BEFREE	19011468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15024693, 15516980, 15657873, 15659956, 15735672, 15901893, 15923081, 15949893, 16084642, 16280598, 16402914, 16691592, 17637745, 17765533, 18201699 View all (41 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	ORPHANET_DG	15024693		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	15024693, 16144830, 17765533, 18980998, 19216736, 19460840, 20957039, 21922652, 22251610, 23342068, 23873030, 26902400, 28464318, 29603574, 30799307 View all (9 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	LHGDN	16691592, 17637745, 18292934		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	25174395, 30127528		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CGI_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27129232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ondine syndrome	Ondine Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28464318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	28464318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16021468, 28431876, 30070746, 30758090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	23106811, 30468801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	23106811, 30468801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	29758594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30758090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	23342068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	27129232, 28433712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	17435756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	20691277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	18658083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	20691277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	29588456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29758594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28986989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14709596, 16021468, 21881099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	14709596, 16021468, 21881099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Central	Sleep apnea	Pubtator	24634632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	18675942, 23536260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	30092902, 36798979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	18198276, 24634632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	23536260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	21881099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	37407197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	31652452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PHOX2B (paired like homeobox 2B)