DCAF8 - DDB1 and CUL4 associated factor 8 Gene

Also Known as GAN2; H326; WDR42A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50717

About DCAF8

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,215,720-160,262,549 (from NCBI)

This gene has 18 transcripts (splice variants), 204 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 31.0), brain (RPKM 23.6) and 25 other tissues.

Summary

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 Ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

DCAF8 Products (1)

mRNA	Protein	Name
NM_015726.4	NP_056541.2	DDB1- and CUL4-associated factor 8

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul4-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	16949367	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22500989	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22500989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DCAF8 Protein Structure

WD40

0
100
200
300
400
500
597 a.a.

Protein Preferred Names	Protein Names
DDB1- and CUL4-associated factor 8	WD repeat domain 42A

DCAF8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DCAF8	Q5TAQ9	SUV39H1	Homo sapiens	O43463	Anti Tag CoIP	23455924
Intra	DCAF8	Q5TAQ9	SUV39H1	Homo sapiens	O43463	Y2H	23455924
Intra	DCAF8	Q5TAQ9	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	31391242
Intra	DCAF8	Q5TAQ9	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	33961781
Intra	DCAF8	Q5TAQ9	DDB1	Homo sapiens	Q16531	Anti Tag CoIP	28514442
Intra	DCAF8	Q5TAQ9	KPNA1	Homo sapiens	P52294	Pull Down	22500989
Intra	DCAF8	Q5TAQ9	KPNA1	Homo sapiens	P52294	Anti Tag CoIP	22500989
Intra	DCAF8	Q5TAQ9	TRIM63	Homo sapiens	Q969Q1	Anti Tag CoIP	31391242
Intra	DCAF8	Q5TAQ9	MDFI	Homo sapiens	Q99750	Y2H Array	25416956
Intra	DCAF8	Q5TAQ9	THAP1	Homo sapiens	Q9NVV9	Y2H Prey Pooling	25416956
Intra	DCAF8	Q5TAQ9	THAP1	Homo sapiens	Q9NVV9	Validated Y2H	25416956
Intra	DCAF8	Q5TAQ9	THAP1	Homo sapiens	Q9NVV9	Y2H Array	25416956
Intra	DCAF8	Q5TAQ9	PRMT1	Homo sapiens	Q99873	Anti Tag CoIP	23455924

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Giant Axonal Neuropathy 2, Autosomal Dominant	GAN2 Hmsn2 With Neurofilament Accumulations And Infrequent Giant Axons Neuropathy, Axonal, Giant, Type 2,, Autosomal Dominant
Giant Axonal Neuropathy 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 With Giant Axons	Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 With Giant Axons Cmt2 With Giant Axons Hmsn2 With Giant Axons
Non-Syndromic X-Linked Intellectual Disability 101	Mrx101 X-Linked Mental Retardation 101
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Cerebellar Ataxia Type 48	Sca48
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Plexopathy
Brachial Plexus Lesion	Brachial Plexus Injuries Brachial Plexus Lesions
Median Neuropathy
Myopathy, Myofibrillar, 6	Myofibrillar Myopathy 6 MFM6 Myopathy, Myofibrillar, Bag3-Related Bag3-Related Myofibrillar Myopathy Muscular Dystrophy, Selcen Type Mfm Bag3-Related Muscular Dystrophy Selcen Type Myopathy Myofibrillar Bag3-Related
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Intraneural Perineurioma
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 4h	Charcot-Marie-Tooth Disease Type 4h CMT4H Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Neuropathy, Type 4h Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h Charcot-Marie-Tooth Disease 4h Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2cc	Charcot-Marie-Tooth Disease Axonal Type 2cc CMT2CC Charcot-Marie-Tooth Neuropathy, Type 2cc Charcot-Marie-Tooth Neuropathy Type 2cc Charcot-Marie-Tooth Disease 2cc
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	Lgmd2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Muscular Dystrophy, Limb-Girdle, Type 2g
Alzheimer Disease 8	Ad8 Alzheimer'S Disease 8 Alzheimer Disease, Familial, 8 Alzheimer Disease, Familial 8 Alzheimer'S Disease 8, Late Onset
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Meckel Syndrome, Type 2	MKS2 Meckel Syndrome 2 Meckel-Gruber Syndrome, Type 2 Meckel Syndrome Type 2
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	Lgmd2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Muscular Dystrophy Hutterite Type Sarcotubular Myopathy Limb-Girdle Muscular Dystrophy Type 2h
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Myopathy, Congenital, Bailey-Bloch	Native American Myopathy Nam MYPBB Myopathy, Congenital, Baily-Bloch Anti-Hmg-Coa Myopathy Anti-Srp Myopathy Autoimmune Necrotizing Myositis Imnm Immune Myopathy With Myocyte Necrosis Immune-Mediated Necrotizing Myopathy Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Necrotizing Autoimmune Myopathy Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
Lissencephaly, X-Linked, 1	Lissencephaly Type 1 Due To Doublecortin Gene Mutation Xlis Lissencephaly, X-Linked LISX1 Lissencephaly And Agenesis Of Corpus Callosum Subcortical Laminal Heterotopia, X-Linked X-Linked Lissencephaly 1 X-Linked Lissencephaly Double Cortex Xlis1 Lissencephaly X-Linked Lisx X-Linked Lissencephaly Type 1 Lissencephaly, X-Linked 1 Subcortical Band Heterotopia X-Linked SBHX Sclh Subcortical Laminar Heterotopia Lissencephaly, X-Linked, Type 1 Subcortical Band Heterotopia
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Granulomatous Amebic Encephalitis	Granulomatous Amoebic Encephalitis Acanthamoeba Encephalitis Acanthamoeba Granulomatous Encephalitis Granulomatous Amebic Encephalitis Due To Acanthamoeba
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	MARCH Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome Hydranencephaly With Renal Aplasia-Dysplasia March Syndrome
Primary Amebic Meningoencephalitis	Pam Naegleria Fowleri Infection Meningoencephalitis Caused By Naegleria Fowleri Primary Amoebic Meningoencephalitis
Amyloidosis, Finnish Type	Finnish Type Amyloidosis Meretoja Syndrome Amyloidosis V Amyloidosis, Meretoja Type Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy Lattice Corneal Dystrophy Type Ii Familial Amyloidosis, Finnish Type Familial Amyloid Polyneuropathy Type Iv Amyloidosis Due To Mutant Gelsolin Agel Amyloidosis Gelsolin Amyloidosis Hereditary Gelsolin Amyloidosis Lattice Corneal Dystrophy Type Ii Finnish Gelsolin-Related Amyloidosis Kymenlaakso Syndrome Lattice Corneal Dystrophy, Gelsolin Type Hereditary Amyloidosis, Finnish Type Lattice Corneal Dystrophy Type 2 Amyloidosis 5 AMYL5 Agel Familial Amyloidosis Finnish Type Meretoja Type Amyloidosis Type Iv Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy, Type V Familial Amyloid Polyneuropathy, Type Iv
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Brachial Plexus Neuropathy	Brachial Plexopathy Brachial Plexus Neuropathies Brachial Plexus Disorder Bpn - [Brachial Plexus Neuropathy] Brachial Plexus Disease Neuropathic Plexus Brachialis Brachial Plexus Syndrome Brachial Plexus Irritation Brachial Plexus Lesion Brachial Plexus Pressure Compression Of Brachial Plexus
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Axonal Neuropathy
Hyaline Body Myopathy	Myosin Storage Myopathy Autosomal Dominant Hyaline Body Myopathy Myopathy, Myosin Storage
Amyotrophic Neuralgia	Neuralgic Amyotrophy Brachial Plexus Neuritis Neuralgic Shoulder Amyotrophy Acute Brachial Plexus Neuritis Immune Brachial Plexus Neuropathy Mononeuritis Multiplex With Brachial Predilection Parsonage-Turner Syndrome
Hennekam Syndrome	Hennekam Lymphangiectasia Lymphedema Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome Lymphangiectasies And Lymphedema Hennekam Type Generalized Lymphatic Dysplasia Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Mononeuritis Of Upper Limb And Mononeuritis Multiplex
Primary Cutaneous Amyloidosis	Plca Primary Localized Cutaneous Amyloidosis Familial Primary Localized Cutaneous Amyloidosis Amyloidosis Ix Lichen Amyloidosis Familial Amyloidosis, Primary Cutaneous Pca Amyloidosis 9 Amyloidosis Familial Cutaneous Lichen Fplca Familial Lichen Amyloidosis
Amyloidosis, Hereditary, Transthyretin-Related	Transthyretin Amyloidosis Familial Amyloid Polyneuropathy Ttr Amyloid Neuropathy Transthyretin Amyloid Neuropathy Transthyretin Amyloid Polyneuropathy Fap Familial Transthyretin Amyloidosis Amyloidosis Transthyretin Related Type I Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy Type I Attrv122i Amyloidosis Hereditary Amyloidosis, Transthyretin-Related Amyloid Polyneuropathy, Familial Attr Amyloidosis Attrm Amyloidosis Corino De Andrade'S Disease Paramyloidosis Transthyretin-Related Hereditary Amyloidosis Ttr Amyloidosis Hereditary Attr Amyloidosis Portuguese Polyneuritic Amyloidosis Portuguese Type Familial Amyloid Neuropathy Swiss Type Amyloid Polyneuropathy Type Ii Familial Amyloid Polyneuropathy Attrv30m Amyloidosis Attrv30m-Related Amyloidosis Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type Attr Cardiomyopathy Attrv122i-Related Amyloidosis Ttr-Related Amyloid Cardiomyopathy Ttr-Related Cardiac Amyloidosis Transthyretin Amyloid Cardiopathy Transthyretin-Related Familial Amyloid Cardiomyopathy Amyloidosis, Transthyretin-Related AMYL-TTR Amyloidosis I Amyloidosis Ohio Type Amyloidosis Type 7 Amyloidosis Vii Amyloid Polyneuropathy Attr Familial Amyloid Polyneuropathy Type Ii Hereditary Amyloidosis Transthyretin-Related Leptomeningeal Amyloidosis Meningocerebrovascular Amyloidosis Oculoleptomeningeal Amyloidosis Familial Amyloid Polyneuropathies Amyloidosis, Leptomeningeal Senile Cardiac Amyloidosis Amyloid Neuropathies, Familial Danish Type Familial Amyloid Cardiomyopathy Familial Amyloid Neuropathy, Portuguese Type Amyloid Polyneuropathy, Swiss Type Hereditary Oculoleptomeningeal Amyloid Angiopathy Amyloid Neuropathies
Perineurioma	Soft Tissue Perineurioma
Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency Carnitine Acylcarnitine Translocase Deficiency CACTD Carnitine-Acylcarnitine Carrier Deficiency
Riddle Syndrome	RIDL Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome Rnf168 Deficiency Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Severe Nonproliferative Diabetic Retinopathy	High Risk Non Proliferative Diabetic Retinopathy Severe Npdr
Hyperkalemic Periodic Paralysis	HYPP Gamstorp Disease Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria With Or Without Myotonia Familial Hyperkalemic Periodic Paralysis Hyperkpp Hyperpp Adynamia Episodica Hereditaria Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis, Type 2 Sodium Channel Muscle Disease Familial Hyperpp Hyperkalemic Pp Primary Hyperpp Periodic Paralysis Hyperkalemic Periodic Paralysis Normokalemic NKPP Periodic Paralysis Eukalemic Paralysis, Hyperkalemic Periodic Paralysis, Periodic, Hyperkalemic Potassium Aggravated Myotonia
Breast Benign Neoplasm	Benign Tumour Of Breast Benign Neoplasm Of Female Breast
Thoracic Benign Neoplasm	Benign Neoplasm Of Thorax
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	Delta-Sarcoglycanopathy Lgmd2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Peripheral Vertigo	Vertigo, Peripheral
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Intracranial Meningioma	Meningioma
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Syringomyelia	Hydromyelia
Subjective Cognitive Decline
Glycogen Storage Disease Iv	Gsd Iv Glycogen Branching Enzyme Deficiency Andersen Disease Amylopectinosis Glycogen Storage Disease Type Iv GSD4 Brancher Deficiency Glycogen Storage Disease, Type Iv Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gbe1 Deficiency Glycogenosis Iv Cirrhosis, Familial, With Deposition Of Abnormal Glycogen Glycogen Storage Disease Type 4 Glycogenosis 4 Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features Andersen'S Disease Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Brancher Deficiency Glycogenosis Branching-Transferase Deficiency Glycogenosis Deficiency Of 1,4-Alpha-Glucan Branching Enzyme Andersen-Tawil Syndrome Gsd 4 Andersen Cardiodysrhythmic Periodic Paralysis Lqt7 Long Qt Syndrome 7 Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Andersen Glycogenosis Branching Enzyme Deficiency Glycogenosis, Type Iv Gsd Type Iv Type Iv Glycogenosis Gbe Deficiency, Childhood Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Gsd Type 4, Childhood Neuromuscular Form Gsdiv, Childhood Neuromuscular Form Glycogen Storage Disease Type 4, Childhood Neuromuscular Form Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogenosis Type 4, Childhood Neuromuscular Form Glycogenosis Type Iv, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gbe Deficiency, Adult Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gsd Type 4, Adult Neuromuscular Form Gsdiv, Adult Neuromuscular Form Glycogen Storage Disease Type 4, Adult Neuromuscular Form Glycogen Storage Disease Type Iv, Adult Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Glycogenosis Type 4, Adult Neuromuscular Form Glycogenosis Type Iv, Adult Neuromuscular Form Gbe Deficiency, Congenital Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gsd Type 4, Congenital Neuromuscular Form Gsdiv, Congenital Neuromuscular Form Glycogen Storage Disease Type 4, Congenital Neuromuscular Form Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Glycogenosis Type 4, Congenital Neuromuscular Form Glycogenosis Type Iv, Congenital Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Type 4, Childhood Combined Hepatic And Myopathic Form Gsdiv, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Fatal Perinatal Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Gsd Type 4, Fatal Perinatal Neuromuscular Form Gsdiv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gbe Deficiency, Non Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gsd Type 4, Non Progressive Hepatic Form Gsdiv, Non Progressive Hepatic Form Glycogen Storage Disease Type 4, Non Progressive Hepatic Form Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Glycogenosis Type 4, Non Progressive Hepatic Form Glycogenosis Type Iv, Non Progressive Hepatic Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gbe Deficiency, Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gsd Type 4, Progressive Hepatic Form Gsdiv, Progressive Hepatic Form Glycogen Storage Disease Type 4, Progressive Hepatic Form Glycogen Storage Disease Type Iv, Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Glycogenosis Type 4, Progressive Hepatic Form Glycogenosis Type Iv, Progressive Hepatic Form Glycogen Storage Disease 4 Gsd-Iv Storage Disease, Glycogen, Type Iv
Congenital Structural Myopathy
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Facial Nerve Disease	Facial Nerve Disorder Facial Nerve Diseases Neuropathy Of Facial Nerve Disorders Of 7th Cranial Nerve Disorders Of The Seventh Cranial Nerve
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Facial Paralysis	Facial Palsy Bell Palsy
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Breast Fibroadenoma	Fibroadenoma Fibroadenoma Of Breast Juvenile Fibroadenoma Of Breast Cellular Fibroadenoma Complex Fibroadenoma Of Breast Juvenile Fibroadenoma Fibroadenoma Nos Fibroadenoma Unspecified Site
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Corneal Dystrophy, Congenital Stromal	Congenital Stromal Corneal Dystrophy CSCD Congenital Hereditary Stromal Dystrophy Congenital Hereditary Stromal Dystrophy Of The Cornea Congenital Stromal Dystrophy Of The Cornea Dacs Decorin-Associated Congenital Stromal Corneal Dystrophy Dystrophia Corneae Parenchymatosa Congenita Witschel Dystrophy Dystrophy, Corneal, Stromal, Congenital
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 Deficiency Of Sarcoglycan Gamma Dmda1 Gamma-Sarcoglycanopathy Lgmd2c Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency Maghrebian Myopathy Muscular Dystrophy, Limb-Girdle, Type 2c Scarmd Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
Chronic Inflammatory Demyelinating Polyradiculoneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy Cidp Polyradiculoneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Pulmonary Valve Stenosis	Valvular Pulmonary Stenosis Heart Valve Pulmonary Stenosis Valvar Pulmonary Stenosis Valvate Pulmonary Stenosis Pulmonary Stenosis Pulmonary Valve Stricture Pulmonic Valve Stenosis Ps - [Pulmonary Valve Stenosis] Pvs - [Pulmonary Valve Stenosis] Pulmonary Valvular Stricture Pulmonary Valvular Stenosis Pulmonary Valvular Obstruction Pulmonary Valve Obstruction Obstructed Pulmonary Valve
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Syndromic Intellectual Disability
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Specific Language Impairment	Language Impairment, Specific
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Specific Developmental Disorder
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Myopathy	Muscular Diseases Myopathies
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03568	DCAF8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DCAF8	VGNC	VGNC:107865
Macaca mulatta	DCAF8	VGNC	VGNC:107104
Mus musculus	DCAF8	MGD	MGI:91860
Rattus norvegicus	DCAF8	RGD	RGD:1308513
Bos taurus	DCAF8	VGNC	VGNC:109400
Others	DCAF8	NCBI