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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57165
Gene name	Gap junction protein gamma 2
Gene symbol	GJC2
Synonyms (NCBI Gene)	CX46.6Cx47GJA12HLD2LMPH1CLMPHM3PMLDARSPG44
Chromosome	1
Chromosome location	1q42.13
Summary	This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involv

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74315311	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315312	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315313	C>T	Pathogenic	Stop gained, coding sequence variant
rs74315314	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs75469429	C>A,G,T	Benign, pathogenic, benign-likely-benign	Missense variant, coding sequence variant, synonymous variant
rs267606846	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606847	C>T	Pathogenic	Missense variant, coding sequence variant
rs375318012	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514734	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776888	A>G	Pathogenic	Upstream transcript variant
rs587777496	A>G	Pathogenic	Upstream transcript variant
rs760502262	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs796065027	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065028	CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065029	->G	Pathogenic	Coding sequence variant, stop gained
rs878853083	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039904	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521990	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793505	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794912	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795867	GCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307499	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1196278287	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1330596542	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1356633840	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1455411788	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553262429	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553262430	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553262438	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1558119445	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571907365	TC>AA	Pathogenic	Coding sequence variant, stop gained
rs1571907430	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571908452	TGCGGCCTCCC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004225	hsa-miR-346	Microarray	16822819
MIRT1019971	hsa-miR-1909	CLIP-seq
MIRT1019972	hsa-miR-298	CLIP-seq
MIRT1019973	hsa-miR-3136-3p	CLIP-seq
MIRT1019974	hsa-miR-3144-5p	CLIP-seq
MIRT1019975	hsa-miR-3155	CLIP-seq
MIRT1019976	hsa-miR-3155b	CLIP-seq
MIRT1019977	hsa-miR-3191	CLIP-seq
MIRT1019978	hsa-miR-3678-3p	CLIP-seq
MIRT1019979	hsa-miR-4267	CLIP-seq
MIRT1019980	hsa-miR-4292	CLIP-seq
MIRT1019981	hsa-miR-4308	CLIP-seq
MIRT1019982	hsa-miR-4421	CLIP-seq
MIRT1019983	hsa-miR-4493	CLIP-seq
MIRT1019984	hsa-miR-4652-5p	CLIP-seq
MIRT1019985	hsa-miR-4667-3p	CLIP-seq
MIRT1019986	hsa-miR-4684-3p	CLIP-seq
MIRT1019987	hsa-miR-484	CLIP-seq
MIRT1019988	hsa-miR-498	CLIP-seq
MIRT1019989	hsa-miR-583	CLIP-seq
MIRT2002024	hsa-miR-4641	CLIP-seq
MIRT1019980	hsa-miR-4292	CLIP-seq

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Transcription factor	Regulation	Reference
SOX10	Unknown	20695017

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	IMP	17344063
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010644	Process	Cell communication by electrical coupling	IMP	17344063
GO:0016020	Component	Membrane	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IMP	17344063

MIM	HGNC	e!Ensembl
608803	17494	ENSG00000198835

Q5T442

Protein name

Gap junction gamma-2 protein (Connexin-46.6) (Cx46.6) (Connexin-47) (Cx47) (Gap junction alpha-12 protein)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nerv

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	5 → 291	Connexin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. {ECO:0000269|PubMed:15192806}.

Sequence

MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQ
PGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGP
RRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTK
AVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRG
RRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRD
GAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR
AGSEKGSASSRDGKTTVWI

Sequence length

439

Interactions

View interactions

	Reactome
			Gap junction assembly

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2124966664, rs1085307499	RCV001814360 RCV001814162	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJC2-related disorder	Likely pathogenic; Pathogenic	rs1571908452	RCV004758054	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 44	Pathogenic; Likely pathogenic	rs2124967068, rs75469429, rs587776888, rs1571908452, rs758571008	RCV003227526 RCV000002159 RCV005867796 RCV001335054 RCV001196363	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypomyelinating leukodystrophy 2	Pathogenic; Likely pathogenic	rs2124966088, rs2124966117, rs2124966664, rs2124966280, rs2124966655, rs2124966375, rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs878853083, rs886039904 View all (13 more)	RCV001647229 RCV001647230 RCV001849194 RCV001824213 RCV001824214 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphatic malformation 3	Pathogenic; Likely pathogenic	rs267606847, rs267606846, rs2527857747, rs1571908452	RCV000002160 RCV000002161 RCV005860340 RCV005860156	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher disease	Likely pathogenic; Pathogenic	rs1455411788	RCV000790418	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs2124966792, rs2124967068, rs2527857747, rs2527875902, rs2527875494, rs2527875152, rs587776888, rs1553262438, rs1558119445, rs1455411788, rs1571908452	RCV002037972 RCV001902187 RCV002634353 RCV002820147 RCV003026170 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GJC2-RELATED LATE-ONSET PRIMARY LYMPHEDEMA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKODYSTROPHY, HYPOMYELINATING, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC MALFORMATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO GJC2 MUTATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION	Ataxia, spastic with optic atrophy and mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 44	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	23243219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	23243219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22351697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22351697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	20637281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23243219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	25524707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	19423250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	BEFREE	22669416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	15192806, 25059390, 29451896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	LHGDN	16969684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15192806, 19056803, 20537300, 21266381, 22610664, 23621851, 24374284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23243219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	BEFREE	16441258		★★★★★ ★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	27288455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25101702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	20607661, 21280457, 24374284, 25059390, 28100454, 28545922, 30144323, 31431325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 2	Hypomyelinating leukodystrophy	Pubtator	15192806, 18571143, 19056803, 22283455, 22669416, 24374284, 25059390, 28905880, 34840390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	25059390, 40594583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	CLINVAR_DG	15192806		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	UNIPROT_DG	15192806		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	GENOMICS_ENGLAND_DG	18094336, 19056803, 24357685, 25655951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	CTD_human_DG	18571143		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	BEFREE	21750683, 22422208, 31270756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	ORPHANET_DG	22669416, 24374284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Leukoencephalopathy	BEFREE	16707726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LYMPHATIC MALFORMATION 3	Lymphatic Malformation	GENOMICS_ENGLAND_DG	18094336, 19056803, 25655951		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LYMPHATIC MALFORMATION 3	Lymphatic Malformation	UNIPROT_DG	20537300		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LYMPHATIC MALFORMATION 3	Lymphatic Malformation	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LYMPHATIC MALFORMATION 3	Lymphatic Malformation	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphedema	Lymphedema	Pubtator	22351697	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	22351697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	20537300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	ORPHANET_DG	20537300, 21266381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy disease	Milroy Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15192806, 19056803, 20537300, 21266381, 22610664, 23621851, 24374284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22484441, 25101702, 30541963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23991165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2992777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22669416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	16969684, 19056803, 20442743, 21871435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	22669416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	19056803, 39232641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	31431325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	16441258, 16707726, 18470932, 20513814, 22283455, 22422208, 27405012, 28905880, 29478609		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher-like disease due to GJC2 mutation	Pelizaeus-Merzbacher disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pendular Nystagmus	Pendular nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	22422208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	23897027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	15192806, 18094336, 20513814		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	21280457		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	BEFREE	22422208		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	GENOMICS_ENGLAND_DG	18094336, 19056803, 25655951		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	UNIPROT_DG	19056803		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	ORPHANET_DG	19056803		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	BEFREE	28545922		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	19056803, 25059390, 39232641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	19056803, 20607661, 22554690, 28545922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GJC2 (gap junction protein gamma 2)