RASGRF1 (Ras protein specific guanine nucleotide releasing factor 1)

Gene

• Entrez ID: 5923
• Gene name: Ras protein specific guanine nucleotide releasing factor 1
• Gene symbol: RASGRF1
• Synonyms (NCBI Gene): CDC25, CDC25L, GNRP, GRF1, GRF55, H-GRF55, PP13187, ras-GRF1
• Chromosome: 15
• Chromosome location: 15q25.1
• Summary: The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The stud

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029141	hsa-miR-26b-5p	Microarray	19088304
MIRT437859	hsa-miR-483-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23429262
MIRT437859	hsa-miR-483-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23429262
MIRT1292283	hsa-miR-127-5p	CLIP-seq
MIRT1292284	hsa-miR-134	CLIP-seq
MIRT1292285	hsa-miR-3118	CLIP-seq
MIRT1292286	hsa-miR-3136-5p	CLIP-seq
MIRT1292287	hsa-miR-3164	CLIP-seq
MIRT1292288	hsa-miR-3921	CLIP-seq
MIRT1292289	hsa-miR-4251	CLIP-seq
MIRT1292290	hsa-miR-4329	CLIP-seq
MIRT1292291	hsa-miR-4439	CLIP-seq
MIRT1292292	hsa-miR-4513	CLIP-seq
MIRT1292293	hsa-miR-4653-5p	CLIP-seq
MIRT1292294	hsa-miR-4663	CLIP-seq
MIRT1292295	hsa-miR-4738-3p	CLIP-seq
MIRT1292296	hsa-miR-4765	CLIP-seq
MIRT1292297	hsa-miR-628-5p	CLIP-seq
MIRT1292298	hsa-miR-1265	CLIP-seq
MIRT1292284	hsa-miR-134	CLIP-seq
MIRT1292299	hsa-miR-2392	CLIP-seq
MIRT1292285	hsa-miR-3118	CLIP-seq
MIRT1292286	hsa-miR-3136-5p	CLIP-seq
MIRT1292300	hsa-miR-3158-3p	CLIP-seq
MIRT1292301	hsa-miR-3679-3p	CLIP-seq
MIRT1292302	hsa-miR-3973	CLIP-seq
MIRT1292303	hsa-miR-4258	CLIP-seq
MIRT1292304	hsa-miR-4424	CLIP-seq
MIRT1292291	hsa-miR-4439	CLIP-seq
MIRT1292305	hsa-miR-4446-3p	CLIP-seq
MIRT1292292	hsa-miR-4513	CLIP-seq
MIRT1292306	hsa-miR-4632	CLIP-seq
MIRT1292307	hsa-miR-4653-3p	CLIP-seq
MIRT1292294	hsa-miR-4663	CLIP-seq
MIRT1292295	hsa-miR-4738-3p	CLIP-seq
MIRT1292296	hsa-miR-4765	CLIP-seq
MIRT1292308	hsa-miR-490-3p	CLIP-seq
MIRT1292297	hsa-miR-628-5p	CLIP-seq
MIRT1292309	hsa-miR-649	CLIP-seq
MIRT1292284	hsa-miR-134	CLIP-seq
MIRT1292285	hsa-miR-3118	CLIP-seq
MIRT1292286	hsa-miR-3136-5p	CLIP-seq
MIRT1292291	hsa-miR-4439	CLIP-seq
MIRT1292292	hsa-miR-4513	CLIP-seq
MIRT1292294	hsa-miR-4663	CLIP-seq
MIRT1292295	hsa-miR-4738-3p	CLIP-seq
MIRT1292296	hsa-miR-4765	CLIP-seq
MIRT1292297	hsa-miR-628-5p	CLIP-seq
MIRT2086860	hsa-miR-1273d	CLIP-seq
MIRT2086861	hsa-miR-132	CLIP-seq
MIRT1292284	hsa-miR-134	CLIP-seq
MIRT2086862	hsa-miR-188-5p	CLIP-seq
MIRT2086863	hsa-miR-212	CLIP-seq
MIRT1292285	hsa-miR-3118	CLIP-seq
MIRT1292286	hsa-miR-3136-5p	CLIP-seq
MIRT2086864	hsa-miR-4287	CLIP-seq
MIRT2086865	hsa-miR-433	CLIP-seq
MIRT1292291	hsa-miR-4439	CLIP-seq
MIRT2086866	hsa-miR-4469	CLIP-seq
MIRT1292292	hsa-miR-4513	CLIP-seq
MIRT1292294	hsa-miR-4663	CLIP-seq
MIRT2086867	hsa-miR-4685-3p	CLIP-seq
MIRT2086868	hsa-miR-4712-3p	CLIP-seq
MIRT2086869	hsa-miR-4713-5p	CLIP-seq
MIRT2086870	hsa-miR-4724-5p	CLIP-seq
MIRT1292295	hsa-miR-4738-3p	CLIP-seq
MIRT1292296	hsa-miR-4765	CLIP-seq
MIRT2086871	hsa-miR-4777-5p	CLIP-seq
MIRT1292297	hsa-miR-628-5p	CLIP-seq
MIRT2086872	hsa-miR-642a	CLIP-seq
MIRT2086873	hsa-miR-942	CLIP-seq
MIRT2086874	hsa-miR-943	CLIP-seq
MIRT2311795	hsa-miR-4303	CLIP-seq
MIRT2311796	hsa-miR-1273g	CLIP-seq
MIRT1292283	hsa-miR-127-5p	CLIP-seq
MIRT1292287	hsa-miR-3164	CLIP-seq
MIRT1292288	hsa-miR-3921	CLIP-seq
MIRT1292289	hsa-miR-4251	CLIP-seq
MIRT2311795	hsa-miR-4303	CLIP-seq
MIRT1292290	hsa-miR-4329	CLIP-seq
MIRT1292293	hsa-miR-4653-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	27856453
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	1379731, 7684828
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	NAS	10918068
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	7684828
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007616	Process	Long-term memory	NAS	10918068
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	27856453
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IEA
GO:0035022	Process	Positive regulation of Rac protein signal transduction	ISS
GO:0035254	Function	Glutamate receptor binding	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043005	Component	Neuron projection	NAS	10918068
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0044342	Process	Type B pancreatic cell proliferation	IEA
GO:0046578	Process	Regulation of Ras protein signal transduction	IEA
GO:0046578	Process	Regulation of Ras protein signal transduction	ISS
GO:0046579	Process	Positive regulation of Ras protein signal transduction	ISS
GO:0046579	Process	Positive regulation of Ras protein signal transduction	TAS	11877426
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA

Other IDs

• MIM: 606600
• HGNC: 9875
• e!Ensembl: ENSG00000058335

Protein

• UniProt ID: Q13972
• Protein name: Ras-specific guanine nucleotide-releasing factor 1 (Ras-GRF1) (Guanine nucleotide-releasing protein) (GNRP) (Ras-specific nucleotide exchange factor CDC25)
• Protein function: Promotes the exchange of Ras-bound GDP by GTP.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	23 → 129	PH domain	Domain
  PF00621	RhoGEF	244 → 424	RhoGEF domain	Domain
  PF00169	PH	457 → 584	PH domain	Domain
  PF00618	RasGEF_N	647 → 765	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	1041 → 1219	RasGEF domain	Family

• Sequence:

  MQKGIRLNDGHVASLGLLARKDGTRKGYLSKRSSDNTKWQTKWFALLQNLLFYFESDSSS
  RPSGLYLLEGCVCDRAPSPKPALSAKEPLEKQHYFTVNFSHENQKALELRTEDAKDCDEW
  VAAIAHASYRTLATEHEALMQKYLHLLQIVETEKTVAKQLRQQIEDGEIEIERLKAEITS
  LLKDNERIQSTQTVAPNDEDSDIKKIKKVQSFLRGWLCRRKWKTIIQDYIRSPHADSMRK
  RNQVVFSMLEAEAEYVQQLHILVNNFLRPLRMAASSKKPPITHDDVSSIFLNSETIMFLH
  QIFYQGLKARISSWPTLVLADLFDILLPMLNIYQEFVRNHQYSLQILAHCKQNRDFDKLL
  KHYEAKPDCEERTLETFLTYPMFQIPRYILTLHELLAHTPHEHVERNSLDYAKSKLEELS
  RIMHDEVSETENIRKNLAIERMIIEGCEILLDTSQTFVRQGSLIQVPMSEKGKITRGRLG
  SLSLKKEGERQCFLFSKHLIICTRGSGGKLHLTKNGVISLIDCTLLEEPESTEEEAKGSG
  QDIDHLDFKIGVEPKDSPPFTVILVASSRQEKAAWTSDISQCVDNIRCNGLMMNAFEENS
  KVTVPQMIKRTREGTREAEMSRSDASLYCDDVDIRFSKTMNSCKVLQIRYASVERLLERL
  TDLRFLSIDFLNTFLHSYRVFTTAIVVLDKLITIYKKPISAIPARWLRSLELLFASGQNN
  KLLYGEPPKSPRATRKFSSPPPLSITKTSSPSRRRKLSLNIPIITGGKALDLAALSCNSN
  GYTSMYSAMSPFSKATLDTSKLYVSSSFTNKIPDEGDTTPEKPEDPSALSKQSSEVSMRE
  ESDIDQNQSDDGDTETSPTKSPTTPKSVKNKNSSEFPLFSYNNGVVMTSCRELDNNRSAL
  SAASAFAIATAGANEGTPNKEKYRRMSLASAGFPPDQRNGDKEFVIRRAATNRVLNVLRH
  WVSKHSQDFETNDELKCKVIGFLEEVMHDPELLTQERKAAANIIRTLTQEDPGDNQITLE
  EITQMAEGVKAEPFENHSALEIAEQLTLLDHLVFKKIPYEEFFGQGWMKLEKNERTPYIM
  KTTKHFNDISNLIASEIIRNEDINARVSAIEKWVAVADICRCLHNYNAVLEITSSMNRSA
  IFRLKKTWLKVSKQTKALIDKLQKLVSSEGRFKNLREALKNCDPPCVPYLGMYLTDLAFI
  EEGTPNYTEDGLVNFSKMRMISHIIREIRQFQQTAYKIEHQAKVTQYLLDQSFVMDEESL
  YESSLRIEPKLPT

• Sequence length: 1273

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Focal adhesion

Reactome:

RAF/MAP kinase cascade

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, DRUG-INDUCED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	10906777, 11181572, 29051140		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30635434		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17190834		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28270555		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31943943	Associate	★☆☆☆☆ Found in Text Mining only
Ametropia	Ametropia	CTD_human_DG	20835236		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15388334, 30356970		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 2 Juvenile	Amyotrophic lateral sclerosis	Pubtator	30224357	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	15388334		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31467124		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	14712212		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28270555		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	11854734		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23372835		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19678938, 20067598	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11956218		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	16186116, 26440052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	26440052	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	18408079		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23372835		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23720743		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27725632		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20436929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20436929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	BEFREE	11337747		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19124484, 20634288, 21675940, 23592719, 29983884		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19124484, 27993161, 28356423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35247929	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33540684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35247929	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30308936		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29178143		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25812484		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25812484		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	16047349		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24597981		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	27575496	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25922072	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11304565, 18675922		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11304565, 17190834		★☆☆☆☆ Found in Text Mining only
Dyskinesia, Drug-Induced	Dyskinesia	CTD_human_DG	21115823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDICT syndrome	EDICT Syndrome	BEFREE	14638698		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21633362, 28611277, 30242550		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	29255182		★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	BEFREE	7557980		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22080864, 24518591		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23775076, 24518591	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24518591		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20217459, 26764186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	25429627		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	23084991, 30837268		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	9563496		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26010611		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	14674991		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32636302	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22752028		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	39180924	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20473311	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15331592, 21151158	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21151158		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10681437, 28287460		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12738732, 23537372		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23537372		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35512219	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29905030		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10512681, 23422181		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19124484, 20634288, 21675940, 23592719, 29983884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20801877		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12115502, 18079321, 21765461, 23023561, 25770188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22961779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30323976		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15324805, 16760651, 17568790, 18973191, 19075563, 21469146, 21675940, 25091805, 26732650, 28110998, 28198152, 28287460, 28806394, 28923919, 28994029, 29178143, 29432733, 29452216, 30714195, 31294975, 31541869, 7667636		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25812484		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16912161		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17389601	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11337747		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	30242550		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	22835604		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11839748		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	12488504		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	23396134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	24150758, 27723119, 29793445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	24767175, 29044055, 29793445, 36864897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia, Degenerative	Myopia	BEFREE	23834555		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11304565, 14674991, 16170030, 17190834, 19214224, 19617897, 22752028, 24072493, 2778032, 29097023, 30718768, 31620201		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18957052		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18957052	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15060152		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17951244, 19617897, 24947259		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	26173643		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	29074966	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17611684		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20801877		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28004354		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	22155366		★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	22155366		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29097023		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12115502, 18079321, 23023561, 25770188		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20631154		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 3	Retinitis Pigmentosa	BEFREE	8673101, 8817343		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25326518		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22752028, 31761617		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	30242550		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35247929	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23720743, 29241584		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28696354	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21633362		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	24150758, 24767175, 26644762		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30242550		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	14674991		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22961779		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24072493	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20819206		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30323976		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29617654		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	23812912		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	20631154, 8673101, 8817343		★☆☆☆☆ Found in Text Mining only