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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1528
Gene name	Cytochrome b5 type A
Gene symbol	CYB5A
Synonyms (NCBI Gene)	CYB5MCB5METAG
Chromosome	18
Chromosome location	18q22.3
Summary	The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglob

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs794728010	T>C	Pathogenic	Splice acceptor variant
rs1555688659	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555691399	C>T	Likely-pathogenic	Stop gained, coding sequence variant

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023043	hsa-miR-124-3p	Microarray	18668037
MIRT054659	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	24078287
MIRT664401	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664400	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664399	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664398	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664397	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664396	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664395	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664394	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664393	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT664392	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT664391	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT664390	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT664389	hsa-miR-302e	HITS-CLIP	23824327
MIRT664388	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT664387	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT664386	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT664385	hsa-miR-520b	HITS-CLIP	23824327
MIRT664384	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT664383	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT664382	hsa-miR-520e	HITS-CLIP	23824327
MIRT664381	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT664380	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT664379	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT664378	hsa-miR-520h	HITS-CLIP	23824327
MIRT664377	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT664375	hsa-miR-378g	HITS-CLIP	23824327
MIRT664376	hsa-miR-600	HITS-CLIP	23824327
MIRT664374	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT664373	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT664372	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT664371	hsa-miR-27a-5p	HITS-CLIP	23824327
MIRT664370	hsa-miR-640	HITS-CLIP	23824327
MIRT648371	hsa-miR-562	HITS-CLIP	23824327
MIRT648370	hsa-miR-5697	HITS-CLIP	23824327
MIRT648369	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT648367	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT664401	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664400	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664399	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664398	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664397	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664396	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664395	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664394	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664393	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT664392	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT664391	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT664390	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT664389	hsa-miR-302e	HITS-CLIP	23824327
MIRT664388	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT664387	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT664386	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT664385	hsa-miR-520b	HITS-CLIP	23824327
MIRT664384	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT664383	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT664382	hsa-miR-520e	HITS-CLIP	23824327
MIRT664381	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT664380	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT664379	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT664378	hsa-miR-520h	HITS-CLIP	23824327
MIRT664377	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT664375	hsa-miR-378g	HITS-CLIP	23824327
MIRT664376	hsa-miR-600	HITS-CLIP	23824327
MIRT664374	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT664373	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT664372	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT664371	hsa-miR-27a-5p	HITS-CLIP	23824327
MIRT664370	hsa-miR-640	HITS-CLIP	23824327
MIRT648371	hsa-miR-562	HITS-CLIP	23824327
MIRT648370	hsa-miR-5697	HITS-CLIP	23824327
MIRT648369	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT648367	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT755405	hsa-miR-1247-5p	Luciferase reporter assayqRT-PCR	35887024
MIRT919279	hsa-miR-1244	CLIP-seq
MIRT919280	hsa-miR-1297	CLIP-seq
MIRT919281	hsa-miR-1305	CLIP-seq
MIRT919282	hsa-miR-135a	CLIP-seq
MIRT919283	hsa-miR-135b	CLIP-seq
MIRT919284	hsa-miR-223	CLIP-seq
MIRT919285	hsa-miR-26a	CLIP-seq
MIRT919286	hsa-miR-26b	CLIP-seq
MIRT919287	hsa-miR-3616-5p	CLIP-seq
MIRT919288	hsa-miR-3647-5p	CLIP-seq
MIRT919289	hsa-miR-3908	CLIP-seq
MIRT919290	hsa-miR-3942-5p	CLIP-seq
MIRT919291	hsa-miR-4289	CLIP-seq
MIRT919292	hsa-miR-4465	CLIP-seq
MIRT919293	hsa-miR-4652-3p	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT919295	hsa-miR-4697-3p	CLIP-seq
MIRT919296	hsa-miR-4703-5p	CLIP-seq
MIRT919297	hsa-miR-4713-5p	CLIP-seq
MIRT919298	hsa-miR-4766-3p	CLIP-seq
MIRT919299	hsa-miR-493	CLIP-seq
MIRT919300	hsa-miR-498	CLIP-seq
MIRT919301	hsa-miR-573	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq
MIRT919279	hsa-miR-1244	CLIP-seq
MIRT919282	hsa-miR-135a	CLIP-seq
MIRT919283	hsa-miR-135b	CLIP-seq
MIRT919284	hsa-miR-223	CLIP-seq
MIRT919287	hsa-miR-3616-5p	CLIP-seq
MIRT919288	hsa-miR-3647-5p	CLIP-seq
MIRT919289	hsa-miR-3908	CLIP-seq
MIRT919290	hsa-miR-3942-5p	CLIP-seq
MIRT919293	hsa-miR-4652-3p	CLIP-seq
MIRT919295	hsa-miR-4697-3p	CLIP-seq
MIRT919296	hsa-miR-4703-5p	CLIP-seq
MIRT919298	hsa-miR-4766-3p	CLIP-seq
MIRT919299	hsa-miR-493	CLIP-seq
MIRT919301	hsa-miR-573	CLIP-seq
MIRT2511719	hsa-miR-124	CLIP-seq
MIRT2511720	hsa-miR-142-5p	CLIP-seq
MIRT2511721	hsa-miR-2052	CLIP-seq
MIRT2511722	hsa-miR-339-3p	CLIP-seq
MIRT2511723	hsa-miR-3941	CLIP-seq
MIRT2511724	hsa-miR-4261	CLIP-seq
MIRT2511725	hsa-miR-4263	CLIP-seq
MIRT2511726	hsa-miR-4277	CLIP-seq
MIRT2511727	hsa-miR-4282	CLIP-seq
MIRT919291	hsa-miR-4289	CLIP-seq
MIRT2511728	hsa-miR-4311	CLIP-seq
MIRT2511729	hsa-miR-4477b	CLIP-seq
MIRT2511730	hsa-miR-4496	CLIP-seq
MIRT2511731	hsa-miR-4643	CLIP-seq
MIRT2511732	hsa-miR-466	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT2511733	hsa-miR-4672	CLIP-seq
MIRT2511734	hsa-miR-4698	CLIP-seq
MIRT2511735	hsa-miR-4789-3p	CLIP-seq
MIRT2511736	hsa-miR-494	CLIP-seq
MIRT2511737	hsa-miR-506	CLIP-seq
MIRT2511738	hsa-miR-548a-5p	CLIP-seq
MIRT2511739	hsa-miR-548ab	CLIP-seq
MIRT2511740	hsa-miR-548ak	CLIP-seq
MIRT2511741	hsa-miR-548an	CLIP-seq
MIRT2511742	hsa-miR-548b-5p	CLIP-seq
MIRT2511743	hsa-miR-548c-5p	CLIP-seq
MIRT2511744	hsa-miR-548d-5p	CLIP-seq
MIRT2511745	hsa-miR-548h	CLIP-seq
MIRT2511746	hsa-miR-548i	CLIP-seq
MIRT2511747	hsa-miR-548j	CLIP-seq
MIRT2511748	hsa-miR-548k	CLIP-seq
MIRT2511749	hsa-miR-548l	CLIP-seq
MIRT2511750	hsa-miR-548w	CLIP-seq
MIRT2511751	hsa-miR-548y	CLIP-seq
MIRT2511752	hsa-miR-559	CLIP-seq
MIRT2511753	hsa-miR-576-5p	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq
MIRT2511719	hsa-miR-124	CLIP-seq
MIRT2511720	hsa-miR-142-5p	CLIP-seq
MIRT2511721	hsa-miR-2052	CLIP-seq
MIRT2511722	hsa-miR-339-3p	CLIP-seq
MIRT2511723	hsa-miR-3941	CLIP-seq
MIRT2511724	hsa-miR-4261	CLIP-seq
MIRT2511725	hsa-miR-4263	CLIP-seq
MIRT2511726	hsa-miR-4277	CLIP-seq
MIRT2511727	hsa-miR-4282	CLIP-seq
MIRT2511728	hsa-miR-4311	CLIP-seq
MIRT2511729	hsa-miR-4477b	CLIP-seq
MIRT2511730	hsa-miR-4496	CLIP-seq
MIRT2511731	hsa-miR-4643	CLIP-seq
MIRT2511732	hsa-miR-466	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT2511733	hsa-miR-4672	CLIP-seq
MIRT2511734	hsa-miR-4698	CLIP-seq
MIRT2511735	hsa-miR-4789-3p	CLIP-seq
MIRT2511736	hsa-miR-494	CLIP-seq
MIRT2511737	hsa-miR-506	CLIP-seq
MIRT2511738	hsa-miR-548a-5p	CLIP-seq
MIRT2511739	hsa-miR-548ab	CLIP-seq
MIRT2511740	hsa-miR-548ak	CLIP-seq
MIRT2511741	hsa-miR-548an	CLIP-seq
MIRT2511742	hsa-miR-548b-5p	CLIP-seq
MIRT2511743	hsa-miR-548c-5p	CLIP-seq
MIRT2511744	hsa-miR-548d-5p	CLIP-seq
MIRT2511745	hsa-miR-548h	CLIP-seq
MIRT2511746	hsa-miR-548i	CLIP-seq
MIRT2511747	hsa-miR-548j	CLIP-seq
MIRT2511748	hsa-miR-548k	CLIP-seq
MIRT2511749	hsa-miR-548l	CLIP-seq
MIRT2511750	hsa-miR-548w	CLIP-seq
MIRT2511751	hsa-miR-548y	CLIP-seq
MIRT2511752	hsa-miR-559	CLIP-seq
MIRT2511753	hsa-miR-576-5p	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	22375059
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
613218	2570	ENSG00000166347

P00167

Protein name

Cytochrome b5 (Microsomal cytochrome b5 type A) (MCB5)

Protein function

Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

PDB

2I96

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00173	Cyt-b5	13 → 85	Cytochrome b5-like Heme/Steroid binding domain	Domain

Sequence

MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDAT
ENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISA
VAVALMYRLYMAED

Sequence length

134

Interactions

View interactions

	Reactome
			Vitamin C (ascorbate) metabolism Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Methemoglobinemia type 4	Pathogenic; Likely pathogenic	rs794728010, rs1555691399, rs1555688659	RCV000000254 RCV000627675 RCV000627676	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYB5A-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA TYPE IV	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	22170710		★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46, XY disorder of sex development	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoma	Adenoma	BEFREE	8496319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	8496319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	28609197, 34616364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	ORPHANET_DG	20080843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24301457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25890314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25225034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25225034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19161326, 39251909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24301457	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35140327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	20676935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital Methemoglobinemia	BEFREE	1400360, 8168836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital Methemoglobinemia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	20676935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	21248073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	8496319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	20676935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24151200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24151200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	22170710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35043601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	21447608, 25225034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin M Disease	Hemoglobin M Disease	BEFREE	8168836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary methemoglobinemia	Hereditary Methemoglobinemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	21248073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	20676935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25225034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25225034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	GENOMICS_ENGLAND_DG	20080843, 8168836		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	UNIPROT_DG	20080843, 22170710, 8168836		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	CLINVAR_DG	22170710		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA TYPE IV	Methemoglobinemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia, Type I	Methemoglobinemia	BEFREE	1400360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methemoglobinemia, Type Ii	Methemoglobinemia	BEFREE	12821320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16645950, 22418433, 24301457, 8496319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	35043601	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18782852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24301457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18782852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25890314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CYB5A (cytochrome b5 type A)