CHRNG (cholinergic receptor nicotinic gamma subunit)

Gene

• Entrez ID: 1146
• Gene name: Cholinergic receptor nicotinic gamma subunit
• Gene symbol: CHRNG
• Synonyms (NCBI Gene): ACHRG
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encode

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912670	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912672	C>T	Pathogenic	Stop gained, coding sequence variant
rs138125827	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148468628	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150556220	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606725	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606726	T>G	Pathogenic	Coding sequence variant, missense variant
rs747067203	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs764266722	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs765746795	C>G	Pathogenic	Coding sequence variant, missense variant
rs767503038	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs774279192	->A	Pathogenic	Coding sequence variant, frameshift variant
rs777219451	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs780249576	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205549	G>A	Likely-pathogenic	Splice donor variant
rs797044677	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863223313	->AGGGTGCCG	Pathogenic	Coding sequence variant, inframe insertion
rs1559302834	C>T	Pathogenic	Coding sequence variant, stop gained
rs1574643342	C>T	Pathogenic	Stop gained, coding sequence variant
rs1574645121	TC>AA	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1964382	hsa-miR-103a	CLIP-seq
MIRT1964383	hsa-miR-107	CLIP-seq
MIRT1964384	hsa-miR-1184	CLIP-seq
MIRT1964385	hsa-miR-1197	CLIP-seq
MIRT1964386	hsa-miR-1286	CLIP-seq
MIRT1964387	hsa-miR-214	CLIP-seq
MIRT1964388	hsa-miR-3117-5p	CLIP-seq
MIRT1964389	hsa-miR-3619-5p	CLIP-seq
MIRT1964390	hsa-miR-4418	CLIP-seq
MIRT1964391	hsa-miR-4436a	CLIP-seq
MIRT1964392	hsa-miR-4704-5p	CLIP-seq
MIRT1964393	hsa-miR-509-3-5p	CLIP-seq
MIRT1964394	hsa-miR-509-5p	CLIP-seq
MIRT1964395	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 29892012, 31515488, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3967651
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8040310
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	3967651
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015267	Function	Channel activity	TAS	3967651
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	TAS	3967651
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS

Other IDs

• MIM: 100730
• HGNC: 1967
• e!Ensembl: ENSG00000196811

Protein

• UniProt ID: P07510
• Protein name: Acetylcholine receptor subunit gamma
• Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	26 → 241	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	248 → 492	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLT
  NLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDG
  VFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDL
  QLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
  PLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQ
  AVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVR
  PLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP
  ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAM
  LSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD

• Sequence length: 517

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

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 prenatal development or birth	Pathogenic	rs767503038	RCV001814005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ankle flexion contracture	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1574645121	RCV000855458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis-like hand anomaly	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive multiple pterygium syndrome	Likely pathogenic; Pathogenic	rs2106221995, rs777809198, rs1265493319, rs2106221597, rs2106221927, rs1404744271, rs751234287, rs797044677, rs765746795, rs2469745410, rs2469745168, rs201762781, rs2469750351, rs1559304988, rs768867302, rs778176530, rs367938116, rs1485492241, rs267606725, rs121912670, rs121912671, rs267606726, rs121912672, rs767503038, rs777219451, rs747067203, rs780249576, rs774279192, rs764266722, rs1559302834, rs1574645121, rs1574643342, rs1055176338	RCV001730106 RCV005014655 RCV005014658 RCV002226870 RCV002226973 RCV002468822 RCV002468823 RCV003223392 RCV000201797 RCV003234967 RCV003234968 RCV003237293 RCV005022028 RCV005014755 RCV005014815 RCV005030197 RCV005030327 RCV005936624 RCV000020002 RCV000020003 RCV000020006 RCV000020007 RCV000020009 RCV000201795 RCV001007785 RCV000498334 RCV003147485 RCV000853328 RCV000660641 RCV002493380 RCV005021266 RCV001007829 RCV001196621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHRNG-related disorder	Pathogenic	rs767503038, rs774279192	RCV000778602 RCV000778599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1574645121	RCV000855458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal multiple pterygium syndrome	Likely pathogenic; Pathogenic	rs777809198, rs1265493319, rs751234287, rs797044677, rs765746795, rs2469751477, rs2469750351, rs1559304988, rs768867302, rs778176530, rs367938116, rs1485492241, rs121912670, rs121912671, rs267606726, rs121912672, rs767503038, rs777219451, rs747067203, rs780249576, rs774279192, rs1553578312, rs764266722, rs1559302834, rs1574645121	RCV005014655 RCV005014658 RCV004782938 RCV004800314 RCV001775100 RCV003236547 RCV005022028 RCV005014755 RCV005014815 RCV005030197 RCV005030327 RCV005936624 RCV000020004 RCV005025075 RCV000020008 RCV001822997 RCV000020010 RCV003479120 RCV002496856 RCV003147486 RCV002265786 RCV000576904 RCV000660641 RCV002493380 RCV004526780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Other rare neuromuscular disorders	Pathogenic	rs774279192	RCV005865328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs777219451	RCV000449634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHROGRYPOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNG-associated hypo-akinesia disorder of prenatal onset	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Multiple pterygium syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS, NEONATAL, TRANSIENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid arthritis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL MYASTHENIA GRAVIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31456060		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	31456060		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CTD_human_DG	16826520, 16826531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25608830, 26752647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	26752647	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive multiple pterygium syndrome	Multiple Pterygium Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral camptodactyly	Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	16826531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	18625075	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG	16826520		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG	16826520		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	22167768		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	38152395	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18625075	Associate	★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16826531, 22167768, 24038971, 25957469, 27245440		★☆☆☆☆ Found in Text Mining only
Exostosis of external ear canal	Exostosis of external ear canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lethal multiple pterygium syndrome	Lethal Multiple Pterygium Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	27245440	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16826531, 22167768, 24038971, 25957469, 27245440		★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	UNIPROT_DG	16826520, 16826531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple pterygium syndrome	Multiple Pterygium Syndrome	CLINVAR_DG	16826520, 16826531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple pterygium syndrome	Multiple Pterygium Syndrome	CTD_human_DG	16826520, 16826531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple pterygium syndrome	Multiple Pterygium Syndrome	GENOMICS_ENGLAND_DG	16826520, 27843868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	19155175, 22167768, 24254455, 25608830, 27245440, 29891879, 30461311, 30868735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple pterygium syndrome	Multiple Pterygium Syndrome	ORPHANET_DG	22167768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	UNIPROT_DG	16826520, 16826531		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	GENOMICS_ENGLAND_DG	16826520, 27843868		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	CTD_human_DG	16826520, 16826531		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	ORPHANET_DG	16826531		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	BEFREE	22167768		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	19155175		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG	16826520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG	16826520		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31646556	Associate	★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	25537362	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	22167768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pterygium	Pterygium	LHGDN	16826531		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	22167768		★☆☆☆☆ Found in Text Mining only
Pterygium, Antecubital	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	18988640		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only