TaoMedAI/RareMedData huggingface dataset:
Phenotype: Congenital lobar overinflation (HP:0033255)
Associated genes and diseases:
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
Phenotype: Delayed ability to walk with support (HP:0033257)
Associated genes and diseases:
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
Phenotype: Pancolitis (HP:0033256)
Associated genes and diseases:
gene_symbol: IL10RB
disease_id: OMIM:612567
disease_name: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: CARD8
disease_id: OMIM:619079
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated genes and diseases:
gene_symbol: CPLX1
disease_id: OMIM:617976
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
gene_symbol: SCN8A
disease_id: OMIM:614558
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
gene_symbol: SLC32A1
disease_id: OMIM:620755
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: SHQ1
disease_id: OMIM:619922
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
gene_symbol: TBC1D24
disease_id: OMIM:615338
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16
gene_symbol: GUF1
disease_id: OMIM:617065
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: FIG4
disease_id: OMIM:612691
disease_name: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
Phenotype: Livedo racemosa (HP:0033260)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: ADA2
disease_id: OMIM:182410
disease_name: SNEDDON SYNDROME
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Phenotype: Renal artery aneurysm (HP:0033261)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Phenotype: Premature thelarche (HP:0010314)
Associated genes and diseases:
gene_symbol: MKRN3
disease_id: OMIM:615346
disease_name: PRECOCIOUS PUBERTY, CENTRAL, 2
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: SOX5
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ALK
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ZEB2
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: NRAS
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: BRAF
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: RAF1
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
Phenotype: Aplasia/Hypoplasia of the diaphragm (HP:0010315)
Associated genes and diseases:
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
gene_symbol: ZFPM2
disease_id: ORPHA:2140
disease_name: Congenital diaphragmatic hernia
CDH
gene_symbol: LONP1
disease_id: ORPHA:2140
disease_name: Congenital diaphragmatic hernia
CDH
gene_symbol: GATA6
disease_id: ORPHA:2140
disease_name: Congenital diaphragmatic hernia
CDH
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated genes and diseases:
gene_symbol: JPH2
disease_id: OMIM:619492
disease_name: CARDIOMYOPATHY, DILATED, 2E
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: MYH7
disease_id: ORPHA:1880
disease_name: Ebstein malformation of the tricuspid valve
Ebstein anomaly of the tricuspid valve
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
Phenotype: Abnormal second toe morphology (HP:0010319)
Associated genes and diseases:
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
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
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Abnormal urine sebacic acid concentration (HP:0500251)
Associated genes and diseases:
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Phenotype: Increased level of gamma-aminobutyric acid in urine (HP:0500253)
Associated genes and diseases:
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Enlarged platelet dense granules (HP:0033264)
Associated genes and diseases:
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
Phenotype: Absent platelet dense granules (HP:0033263)
Associated genes and diseases:
gene_symbol: HPS4
disease_id: OMIM:614073
disease_name: HERMANSKY-PUDLAK SYNDROME 4
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
Phenotype: Abnormal zona pellucida morphology (HP:0020156)
Associated genes and diseases:
gene_symbol: ZP2
disease_id: OMIM:618353
disease_name: OOCYTE MATURATION DEFECT 6
gene_symbol: ZP1
disease_id: OMIM:615774
disease_name: OOCYTE MATURATION DEFECT 1
Phenotype: Abnormal third toe morphology (HP:0010320)
Associated genes and diseases:
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
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: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Abnormal fourth toe morphology (HP:0010321)
Associated genes and diseases:
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
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: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
Phenotype: Abnormal morphology of phalanx of the 2nd toe (HP:0010324)
Associated genes and diseases:
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
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: Aplasia/Hypoplasia of the 2nd toe (HP:0010325)
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: Deviation of the 2nd toe (HP:0010326)
Associated genes and diseases:
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
Phenotype: Flexion contracture of the 2nd toe (HP:0010327)
Associated genes and diseases:
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Atrichia (HP:0500262)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: SREBF1
disease_id: OMIM:619016
disease_name: IFAP SYNDROME 2
Phenotype: Abnormal gamma-delta T cell proportion (HP:0500269)
Associated genes and diseases:
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
Phenotype: Increased CD8+ TEMRA T cell proportion (HP:0500265)
Associated genes and diseases:
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
Phenotype: Increased proportion of CD4-positive T cells (HP:0032219)
Associated genes and diseases:
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
Phenotype: Decreased CD8+ TEMRA T cell proportion (HP:0500266)
Associated genes and diseases:
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
Phenotype: Enterocutaneous fistula (HP:0033279)
Associated genes and diseases:
gene_symbol: IL10RB
disease_id: OMIM:612567
disease_name: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
Phenotype: Reduced CD95-induced lymphocyte apoptosis (HP:0033278)
Associated genes and diseases:
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
Phenotype: Central retinal vein occlusion (HP:0020166)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Phenotype: Abnormal drug response (HP:0020169)
Associated genes and diseases:
gene_symbol: CES1
disease_id: OMIM:618057
disease_name: DRUG METABOLISM, ALTERED, CES1-RELATED
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
Phenotype: Paratracheal lymphadenopathy (HP:0033280)
Associated genes and diseases:
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
Phenotype: Circulating nucleated red blood cells (HP:0033281)
Associated genes and diseases:
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
Phenotype: Abnormal glomerular basement membrane morphology (HP:0033282)
Associated genes and diseases:
gene_symbol: CFH
disease_id: OMIM:609814
disease_name: COMPLEMENT FACTOR H DEFICIENCY
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: NOS1AP
disease_id: OMIM:619155
disease_name: NEPHROTIC SYNDROME, TYPE 22
gene_symbol: COL4A4
disease_id: OMIM:203780
disease_name: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: COL4A4
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: CEP83
disease_id: OMIM:615862
disease_name: NEPHRONOPHTHISIS 18
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: COL4A5
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: CD151
disease_id: OMIM:609057
disease_name: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
gene_symbol: ARHGDIA
disease_id: OMIM:615244
disease_name: NEPHROTIC SYNDROME, TYPE 8
gene_symbol: COL4A3
disease_id: OMIM:620320
disease_name: HEMATURIA, BENIGN FAMILIAL, 2
Phenotype: Abnormality of the phalanges of the 3rd toe (HP:0010330)
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: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the 3rd toe (HP:0010331)
Associated genes and diseases:
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
Phenotype: Deviation of the 3rd toe (HP:0010332)
Associated genes and diseases:
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Phenotype: Flexion contracture of 3rd toe (HP:0010333)
Associated genes and diseases:
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
Phenotype: Abnormality of the phalanges of the 4th toe (HP:0010336)
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: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the 4th toe (HP:0010337)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4