TaoMedAI/RareMedData huggingface dataset:
Gene: DCC
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Infantile onset (HP:0003593)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Infantile onset (HP:0003593)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Congenital onset (HP:0003577)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Fusion of the left and right thalami (HP:0010664)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Unsteady gait (HP:0002317)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: DCC
Phenotype: Fetal onset (HP:0011461)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Myopathy (HP:0003198)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Kyphosis (HP:0002808)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Abnormality of the anterior commissure (HP:0030301)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Strabismus (HP:0000486)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Short neck (HP:0000470)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Visual impairment (HP:0000505)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCN
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Increased corneal thickness (HP:0011487)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Band-shaped corneal dystrophy (HP:0007709)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Strabismus (HP:0000486)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: DCN
Phenotype: Glaucoma (HP:0000501)
Associated disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Gene: ACE
Phenotype: Renotubular dysgenesis (HP:0008660)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Hypotension (HP:0002615)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Anuria (HP:0100519)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Microcephaly (HP:0000252)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: ACE
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: DCT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Congenital onset (HP:0003577)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Nystagmus (HP:0000639)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Photophobia (HP:0000613)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCT
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Gene: DCTN1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Dystonia (HP:0001332)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Tremor (HP:0001337)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Tremor (HP:0001337)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hypotension (HP:0002615)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Rigidity (HP:0002063)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Adult onset (HP:0003581)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Adult onset (HP:0003581)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Insomnia (HP:0100785)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Gene: DCTN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Gene: DCTN1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: PERRY SYNDROME (OMIM:168605)
Gene: DCTN1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DCTN1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: DCTN1
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)