TaoMedAI/RareMedData huggingface dataset:
Phenotype: Neuralgia (HP:0033345)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
Phenotype: Cognitive epileptic aura (HP:0033347)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Psychic epileptic aura (HP:0033346)
Associated genes and diseases:
gene_symbol: PDE2A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: PRRT2
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
gene_symbol: NPRL3
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NPRL2
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: DEPDC5
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
Phenotype: Seizure cluster (HP:0033349)
Associated genes and diseases:
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: ADORA2A
disease_id: ORPHA:363549
disease_name: Acute encephalopathy with biphasic seizures and late reduced diffusion
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
Phenotype: Ductal carcinoma in situ (HP:0030075)
Associated genes and diseases:
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Chemodectoma (HP:0030074)
Associated genes and diseases:
gene_symbol: SDHAF2
disease_id: OMIM:601650
disease_name: PARAGANGLIOMAS 2
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
gene_symbol: SDHB
disease_id: OMIM:115310
disease_name: PARAGANGLIOMAS 4
gene_symbol: SDHC
disease_id: OMIM:605373
disease_name: PARAGANGLIOMAS 3
Phenotype: Neoplasm of the pharynx (HP:0100638)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Paranasal sinus neoplasm (HP:0030072)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Medulloepithelioma (HP:0030071)
Associated genes and diseases:
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
Phenotype: Central primitive neuroectodermal tumor (HP:0030070)
Associated genes and diseases:
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
Phenotype: Cervix cancer (HP:0030079)
Associated genes and diseases:
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: FGFR3
disease_id: OMIM:603956
disease_name: CERVICAL CANCER
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated genes and diseases:
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI SYNDROME
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: NDUFAF6
disease_id: OMIM:618913
disease_name: FANCONI RENOTUBULAR SYNDROME 5
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: EGFR
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PPP2R1B
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ERCC6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: MAP3K8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: KRAS
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: SLC67A1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PRKN
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: CYP2A6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ERBB2
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: BRAF
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: IRF1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: CASP8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: FASLG
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PIK3CA
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
Phenotype: Candida esophagitis (HP:0033351)
Associated genes and diseases:
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: IL17RC
disease_id: OMIM:616445
disease_name: CANDIDIASIS, FAMILIAL, 9
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Phenotype: Symphalangism affecting the proximal phalanx of the 2nd toe (HP:0010401)
Associated genes and diseases:
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Phenotype: Increased urine deoxypyridinoline level (HP:0033355)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
Phenotype: Abnormal urine osmolality (HP:0033358)
Associated genes and diseases:
gene_symbol: AVPR2
disease_id: ORPHA:223
disease_name: Arginine vasopressin resistance
Nephrogenic diabetes insipidus
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
gene_symbol: AQP2
disease_id: ORPHA:223
disease_name: Arginine vasopressin resistance
Nephrogenic diabetes insipidus
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: NPHP1
disease_id: OMIM:256100
disease_name: NEPHRONOPHTHISIS 1
Phenotype: Limited head rotation (HP:0033357)
Associated genes and diseases:
gene_symbol: MYL11
disease_id: OMIM:619110
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1C
Phenotype: Recurrent coughing spasms (HP:0033362)
Associated genes and diseases:
gene_symbol: MPZ
disease_id: OMIM:607736
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
Phenotype: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413)
Associated genes and diseases:
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
Phenotype: Hyaline membranes (HP:0033363)
Associated genes and diseases:
gene_symbol: GUF1
disease_id: OMIM:617065
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40
Phenotype: Lipoid pneumonia (HP:0033364)
Associated genes and diseases:
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
Phenotype: Orthodeoxia (HP:0033367)
Associated genes and diseases:
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
Phenotype: Cavitating leukodystrophy (HP:0033369)
Associated genes and diseases:
gene_symbol: COA8
disease_id: OMIM:619061
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
Phenotype: Salt craving (HP:0030083)
Associated genes and diseases:
gene_symbol: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
Phenotype: Alveolar septal thickening (HP:0033376)
Associated genes and diseases:
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Bilateral superior vena cava (HP:0033379)
Associated genes and diseases:
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: ACVR2B
disease_id: OMIM:613751
disease_name: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
Phenotype: Nasal chondritis (HP:0033380)
Associated genes and diseases:
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
Phenotype: Aplasia of the phalanges of the 2nd toe (HP:0010430)
Associated genes and diseases:
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
Phenotype: Absent distal phalanx of the 2nd toe (HP:0010432)
Associated genes and diseases:
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated genes and diseases:
gene_symbol: DNAJB6
disease_id: OMIM:603511
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
gene_symbol: SETX
disease_id: OMIM:602433
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: SIGMAR1
disease_id: OMIM:605726
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: UQCRC1
disease_id: OMIM:619279
disease_name: PARKINSONISM WITH POLYNEUROPATHY
gene_symbol: VAMP1
disease_id: OMIM:618323
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
gene_symbol: PMP2
disease_id: OMIM:618279
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
gene_symbol: SYT2
disease_id: OMIM:616040
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
gene_symbol: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: BSCL2
disease_id: OMIM:619112
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: KARS1
disease_id: OMIM:613641
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
Phenotype: Elevated urinary collagen degradation products (HP:0033384)
Associated genes and diseases:
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
Phenotype: Abnormal circulating collagen degradation product concentration (HP:0033386)
Associated genes and diseases:
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
Phenotype: Burkitt lymphoma (HP:0030080)
Associated genes and diseases:
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: NFATC2
disease_id: OMIM:620232
disease_name: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: MYC
disease_id: OMIM:113970
disease_name: BURKITT LYMPHOMA
Phenotype: Periorbital wrinkles (HP:0000607)
Associated genes and diseases:
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Phenotype: Primum atrial septal defect (HP:0010445)
Associated genes and diseases:
gene_symbol: CFAP45
disease_id: OMIM:619608
disease_name: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: ERCC4
disease_id: OMIM:615272
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: GATA4
disease_id: OMIM:614430
disease_name: ATRIOVENTRICULAR SEPTAL DEFECT 4