DYNC1H1 - dynein cytoplasmic 1 heavy chain 1 Gene

Homo sapiens

Also known as p22; DHC1; DNCL; DYHC; HL-3; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; SMALED1

Gene ID: 1778 | Gene type: protein coding

About DYNC1H1

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:101,964,573-102,056,443 (from NCBI)

This gene has 64 transcripts (splice variants), 228 orthologues, 15 paralogues and is associated with 8 phenotypes. Ubiquitous expression in brain (RPKM 38.0), skin (RPKM 23.8) and 25 other tissues.

Summary

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and LIGHT chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]

DYNC1H1 Products(1)

mRNA	Protein	Name
NM_001376.5	NP_001367.2	cytoplasmic dynein 1 heavy chain 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dynein light intermediate chain binding	IPI IPI: Inferred from physical interaction	25272277	GOA
contributes to minus-end-directed microtubule motor activity	IDA IDA: Inferred from direct assay	21723285	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in establishment of spindle localization	IMP IMP: Inferred from mutant phenotype	23027904	GOA
involved in positive regulation of intracellular transport	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in positive regulation of spindle assembly	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in regulation of metaphase plate congression	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	23027904	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of cytoplasmic dynein complex	IDA IDA: Inferred from direct assay	21723285	GOA
part of dynein complex	IPI IPI: Inferred from physical interaction	24986880	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	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

DYNC1H1 Protein Structure

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
800
1600
2400
3200
4000
4646 a.a.

Protein Preferred Names

Protein Names

cytoplasmic dynein 1 heavy chain 1

dynein heavy chain, cytosolic

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, Axonal, Type 2o

Charcot-Marie-Tooth Disease Axonal Type 2o	CMT2O
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o	Charcot-Marie-Tooth Neuropathy Axonal Type 2o
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o	Charcot-Marie-Tooth Disease 2o
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o

Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant

SMALED1	Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Kugelberg-Welander Syndrome, Autosomal Dominant	Smaled
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant	Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad
Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 1	Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Dync1h1-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy	Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Autosomal Dominant
Autosomal Dominant Childhood Proximal Spinal Muscular Atrophy	Autosomal Dominant Juvenile Proximal Spinal Muscular Atrophy
Autosomal Dominant Kugelberg-Welander Syndrome	Sma-Led

Intellectual Developmental Disorder, Autosomal Dominant 13

MRD13	Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects	Autosomal Dominant Non-Syndromic Intellectual Disability 13
Autosomal Dominant Intellectual Developmental Disorder 13	Autosomal Dominant Mental Retardation 13
Mental Retardation, Autosomal Dominant, Type 13

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
Kugelberg-Welander Syndrome, Autosomal Dominant	Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
Sma-Led	Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant	Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
Spinal Muscular Atrophy, Lower Extremity, Dominant

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]

Neuronal Migration Disorders

Abnormality Of Neuronal Migration	Malformations Of Cortical Development, Group Ii
Neuronal Dysmigration Syndromes

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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 Dominant Non-Syndromic Intellectual Disability

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Polymicrogyria

Pmg

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

Spinal Muscular Atrophy With Lower Extremity Predominant 1

Spinal Muscular Atrophy With Lower Extremity Predominance 1

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hypotonia

Myopathy

Muscular Diseases

Myopathies

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Charcot-Marie-Tooth Disease, Axonal, Type 2a1

CMT2A1	Charcot-Marie-Tooth Disease Type 2a1
Hereditary Motor And Sensory Neuropathy Iia1	Hmsn Iia1
Hmsn2a1	Charcot-Marie-Tooth Disease, Type 2a1
Charcot-Marie-Tooth Disease Neuronal Type 2a1	Charcot-Marie-Tooth Neuropathy Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1	Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
Charcot-Marie-Tooth Neuropathy, Type 2a1	Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1	Charcot-Marie-Tooth Disease 2a1
Charcot-Marie-Tooth Disease Axonal Type 2a1

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

Hypomagnesemia 6, Renal

Renal Hypomagnesemia 6	HOMG6
Renal Hypomagnesemia-6	Hypomagnesemia 6
Hypomagnesemia, Type 6, Renal

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B	Hmn Viib
Dhmn7b	Neuropathy, Distal Hereditary Motor, Type Viib
Distal Hereditary Motor Neuronopathy Type 7b	Distal Hereditary Motor Neuropathy Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b	Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
Lower Motor Neuron Disease, Dynactin Type	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
Harper-Young Myopathy	Neuronopathy, Distal Hereditary Motor, 7b
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib	Lower Motor Neuron Disease Dynactin Type
Plmnd	Progressive Lower Motor Neuron Disease
Neuropathy, Motor, Distal, Hereditary, Type Viib

Intellectual Developmental Disorder, Autosomal Dominant 35

MRD35	Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Autosomal Dominant Non-Syndromic Intellectual Disability 35	Mental Retardation, Autosomal Dominant 35
Autosomal Dominant Intellectual Developmental Disorder 35	Autosomal Dominant Mental Retardation 35
Mental Retardation, Autosomal Dominant, Type 35

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q	CMT2Q
Charcot-Marie-Tooth Neuropathy, Type 2q	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Neuropathy Type 2q	Charcot-Marie-Tooth Disease 2q
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q	Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

Developmental And Epileptic Encephalopathy 66

DEE66	Epileptic Encephalopathy, Early Infantile, 66
Eiee66	Developmental And Epileptic Encephalopathy, 66
Early Infantile Epileptic Encephalopathy 66	Encephalopathy, Epileptic, Early Infantile, Type 66

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

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

CMTX2	Charcot-Marie-Tooth Disease X-Linked Recessive 2
X-Linked Charcot-Marie-Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2	Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Congenital Disorder Of Glycosylation, Type Iim

CDG2M	Congenital Disorder Of Glycosylation Type Iim
Slc35a2-Cdg	Epileptic Encephalopathy, Early Infantile, 22
Cdg-Iim	Cdg Iim
Cdgiim	Developmental And Epileptic Encephalopathy 22
Eiee22	Congenital Disorder Of Glycosylation Type 2m
Cdg Syndrome Type Iim	Dee22
Slc35a2-Congenital Disorder Of Glycosylation	Epileptic Encephalopathy, Early Infantile, 22
Eiee22	Congenital Disorder Of Glycosylation 2m
Congenital Disorder Of Glycosylation X-Linked	Glycosylation, Congenital Disorder Of, Type Iim

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Tubulinopathy

Tubulinopathies

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Neuronopathy, Distal Hereditary Motor, Type Iic

HMN2C	Hmn Iic
Dhmn2c	Distal Hereditary Motor Neuronopathy Type 2c
Distal Hereditary Motor Neuropathy Type Iic	Neuronopathy, Distal Hereditary Motor, Type 2c
Neuropathy, Distal Hereditary Motor, Type Iic	Neuronopathy, Distal Hereditary Motor, 2c
Dhmn Iic	Neuropathy, Motor, Distal, Hereditary, Type 2c

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

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Scapuloperoneal Spinal Muscular Atrophy

SPSMA	Amyotrophy, Neurogenic Scapuloperoneal, New England Type
Neurogenic Scapuloperoneal Amyotrophy, New England Type	Scapuloperoneal Neuronopathy
Spinal Muscular Atrophy, Scapuloperoneal	Amyotrophy Neurogenic Scapuloperoneal New England Type
Muscular Atrophy, Spinal	Scapuloperoneal Form Of Spinal Muscular Atrophy

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy	Autosomal Dominant Dhmn
Autosomal Dominant Distal Spinal Muscular Atrophy

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04082	DYNC1H1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DYNC1H1	VGNC	VGNC:71951
Rattus norvegicus	DYNC1H1	RGD	RGD:2511
Bos taurus	DYNC1H1	VGNC	VGNC:50143
Canis familiaris	DYNC1H1	VGNC	VGNC:40143
Felis catus	DYNC1H1	VGNC	VGNC:80982
Mus musculus	DYNC1H1	MGD	MGI:103147