| |
|
|
|
| |
|
|
  | | |
46,XY sex reversal
|
DHH*
|
Dhh*
|
1 model
|
HomoloGene and HGNC
|
|
acheiropody
|
LMBR1*
|
Lmbr1*
|
1 model
|
HomoloGene and HGNC
|
|
achondrogenesis type IA
|
TRIP11*
|
Trip11*
|
3 models
|
HomoloGene and HGNC
|
|
achondrogenesis type II
|
COL2A1*
|
Col2a1*
|
1 model
|
HomoloGene and HGNC
|
|
achondroplasia
|
FGFR3*
|
Fgfr3*
|
11 models
|
HomoloGene and HGNC
|
|
achromatopsia 2
|
CNGA3*
|
Cnga3*
|
3 models
|
HomoloGene and HGNC
|
|
achromatopsia 3
|
CNGB3*
|
Cngb3*
|
2 models
|
HomoloGene and HGNC
|
|
achromatopsia 4
|
GNAT2*
|
Gnat2*
|
2 models
|
HomoloGene and HGNC
|
|
acrocephalosyndactylia
|
FGFR2*
|
Fgfr2*
|
8 models
|
HomoloGene and HGNC
|
|
acromesomelic dysplasia, Grebe type
|
GDF5*
|
Gdf5*
|
2 models
|
HomoloGene and HGNC
|
|
acromesomelic dysplasia, Hunter-Thompson type
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
acromesomelic dysplasia, Maroteaux type
|
NPR2*
|
Npr2*
|
2 models
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
FLT3*
|
Flt3*
|
4 models
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
CEBPA*
|
Cebpa*
|
1 model
|
HomoloGene and HGNC
|
|
adenosine deaminase deficiency
|
ADA*
|
Ada*
|
1 model
|
HomoloGene and HGNC
|
|
adrenocorticotropic hormone deficiency
|
TBX19*
|
Tbx19*
|
1 model
|
HomoloGene and HGNC
|
|
adrenoleukodystrophy
|
ABCD1*
|
Abcd1*
|
9 models
|
HomoloGene and HGNC
|
|
adult-onset autosomal dominant demyelinating leukodystrophy
|
LMNB1*
|
Lmnb1*
|
3 models
|
HomoloGene and HGNC
|
|
agenesis of the corpus callosum with peripheral neuropathy
|
SLC12A6*
|
Slc12a6*
|
3 models
|
HomoloGene and HGNC
|
|
age related macular degeneration 12
|
CX3CR1*
|
Cx3cr1*
|
2 models
|
HomoloGene and HGNC
|
|
age related macular degeneration 4
|
CFH*
|
Cfh*
|
1 model
|
HomoloGene and HGNC
|
|
Alagille syndrome
|
JAG1*
|
Jag1*
|
6 models
|
HomoloGene and HGNC
|
|
Alexander disease
|
GFAP*
|
Gfap*
|
7 models
|
HomoloGene and HGNC
|
|
alopecia universalis
|
HR*
|
Hr*
|
3 models
|
HomoloGene and HGNC
|
|
alpha-2-plasmin inhibitor deficiency
|
SERPINF2*
|
Serpinf2*
|
1 model
|
HomoloGene and HGNC
|
|
alpha thalassemia-X-linked intellectual disability syndrome
|
ATRX*
|
Atrx*
|
3 models
|
HomoloGene and HGNC
|
|
alternating hemiplegia of childhood
|
ATP1A3*
|
Atp1a3*
|
4 models
|
HomoloGene and HGNC
|
|
alveolar rhabdomyosarcoma
|
PAX3*
|
Pax3*
|
4 models
|
HomoloGene and HGNC
|
|
Alzheimer's disease 3
|
PSEN1*
|
Psen1*
|
15 models
|
HomoloGene and HGNC
|
|
amelogenesis imperfecta hypomaturation type 2A2
|
MMP20*
|
Mmp20*
|
1 model
|
HomoloGene and HGNC
|
|
amelogenesis imperfecta hypomaturation type 2A3
|
WDR72*
|
Wdr72*
|
1 model
|
HomoloGene and HGNC
|
|
amelogenesis imperfecta type 1B
|
ENAM*
|
Enam*
|
6 models
|
HomoloGene and HGNC
|
|
amelogenesis imperfecta type 1E
|
AMELX*
|
Amelx*
|
6 models
|
HGNC
|
|
amyotrophic lateral sclerosis type 1
|
SOD1*
|
Sod1*
|
39 models
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 10
|
TARDBP*
|
Tardbp*
|
22 models
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 6
|
FUS*
|
Fus*
|
5 models
|
HGNC
|
|
androgen insensitivity syndrome
|
AR*
|
Ar*
|
8 models
|
HomoloGene and HGNC
|
|
aniridia
|
PAX6*
|
Pax6*
|
2 models
|
HomoloGene and HGNC
|
|
antithrombin III deficiency
|
SERPINC1*
|
Serpinc1*
|
1 model
|
HomoloGene and HGNC
|
|
aplastic anemia
|
IFNG*
|
Ifng*
|
1 model
|
HomoloGene and HGNC
|
|
aromatase excess syndrome
|
CYP19A1*
|
Cyp19a1*
|
1 model
|
HomoloGene and HGNC
|
|
arrhythmogenic right ventricular dysplasia 12
|
JUP*
|
Jup*
|
4 models
|
HomoloGene and HGNC
|
|
arrhythmogenic right ventricular dysplasia 2
|
RYR2*
|
Ryr2*
|
1 model
|
HomoloGene and HGNC
|
|
arrhythmogenic right ventricular dysplasia 8
|
DSP*
|
Dsp*
|
1 model
|
HomoloGene and HGNC
|
|
arterial calcification of infancy
|
ENPP1*
|
Enpp1*
|
2 models
|
HomoloGene and HGNC
|
|
asphyxiating thoracic dystrophy 2
|
IFT80*
|
Ift80*
|
1 model
|
HomoloGene and HGNC
|
|
asphyxiating thoracic dystrophy 3
|
DYNC2H1*
|
Dync2h1*
|
1 model
|
HomoloGene and HGNC
|
|
ataxia telangiectasia
|
ATM*
|
Atm*
|
8 models
|
HomoloGene and HGNC
|
|
Athabaskan brainstem dysgenesis syndrome
|
HOXA1*
|
Hoxa1*
|
1 model
|
HomoloGene and HGNC
|
|
atrial heart septal defect 2
|
GATA4*
|
Gata4*
|
1 model
|
HomoloGene and HGNC
|
|
atrial heart septal defect 7
|
NKX2-5*
|
Nkx2-5*
|
2 models
|
HomoloGene and HGNC
|
|
atrichia with papular lesions
|
HR*
|
Hr*
|
2 models
|
HomoloGene and HGNC
|
|
atypical teratoid rhabdoid tumor
|
SMARCB1*
|
Smarcb1*
|
3 models
|
HomoloGene and HGNC
|
|
autoimmune lymphoproliferative syndrome
|
FASLG*
|
Fasl*
|
1 model
|
HomoloGene and HGNC
|
|
autoimmune lymphoproliferative syndrome
|
FAS*
|
Fas*
|
3 models
|
HomoloGene and HGNC
|
|
autoimmune lymphoproliferative syndrome type 2B
|
CASP8*
|
Casp8*
|
1 model
|
HomoloGene and HGNC
|
|
autoimmune polyendocrine syndrome type 1
|
AIRE*
|
Aire*
|
9 models
|
HomoloGene and HGNC
|
|
autosomal dominant auditory neuropathy 1
|
DIAPH3*
|
Diaph3*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal dominant familial periodic fever
|
TNFRSF1A*
|
Tnfrsf1a*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal dominant hypophosphatemic rickets
|
FGF23*
|
Fgf23*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal dominant nocturnal frontal lobe epilepsy 3
|
CHRNB2*
|
Chrnb2*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 12
|
TECTA*
|
Tecta*
|
4 models
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 13
|
COL11A2*
|
Col11a2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 22
|
MYO6*
|
Myo6*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 25
|
SLC17A8*
|
Slc17a8*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 36
|
TMC1*
|
Tmc1*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 9
|
COCH*
|
Coch*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant osteopetrosis 2
|
CLCN7*
|
Clcn7*
|
6 models
|
HomoloGene and HGNC
|
|
autosomal dominant pseudohypoaldosteronism type 1
|
NR3C2*
|
Nr3c2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant type IV Ehlers-Danlos syndrome
|
COL3A1*
|
Col3a1*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 1
|
TGM1*
|
Tgm1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 10
|
PNPLA1*
|
Pnpla1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 4B
|
ABCA12*
|
Abca12*
|
4 models
|
HomoloGene and HGNC
|
|
autosomal recessive hypophosphatemic rickets
|
DMP1*
|
Dmp1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive isolated ectopia lentis 2
|
ADAMTSL4*
|
Adamtsl4*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2A
|
CAPN3*
|
Capn3*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2B
|
DYSF*
|
Dysf*
|
4 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2C
|
SGCG*
|
Sgcg*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2D
|
SGCA*
|
Sgca*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2E
|
SGCB*
|
Sgcb*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2F
|
SGCD*
|
Sgcd*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2G
|
TCAP*
|
Tcap*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2H
|
TRIM32*
|
Trim32*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2I
|
FKRP*
|
Fkrp*
|
4 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2J
|
TTN*
|
Ttn*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2L
|
ANO5*
|
Ano5*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive limb-girdle muscular dystrophy type 2P
|
DAG1*
|
Dag1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 12
|
CDH23*
|
Cdh23*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 16
|
STRC*
|
Strc*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 18A
|
USH1C*
|
Ush1c*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 18B
|
OTOG*
|
Otog*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 1A
|
GJB6*
|
Gjb6*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 1A
|
GJB2*
|
Gjb2*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 2
|
MYO7A*
|
Myo7a*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 22
|
OTOA*
|
Otoa*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 23
|
PCDH15*
|
Pcdh15*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 29
|
CLDN14*
|
Cldn14*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 3
|
MYO15A*
|
Myo15*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 30
|
MYO3A*
|
Myo3a*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 31
|
WHRN*
|
Whrn*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 37
|
MYO6*
|
Myo6*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 42
|
ILDR1*
|
Ildr1*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 48
|
CIB2*
|
Cib2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 49
|
MARVELD2*
|
Marveld2*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 59
|
PJVK*
|
Pjvk*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 63
|
LRTOMT*
|
Tomt*,
Lrrc51
|
1 model
|
HGNC
|
|
autosomal recessive nonsyndromic deafness 68
|
S1PR2*
|
S1pr2*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 7
|
TMC1*
|
Tmc1*
|
6 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 74
|
MSRB3*
|
Msrb3*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 79
|
TPRN*
|
Tprn*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 9
|
OTOF*
|
Otof*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness 93
|
CABP2*
|
Cabp2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 1
|
TCIRG1*
|
Tcirg1*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 2
|
TNFSF11*
|
Tnfsf11*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 3
|
CA2*
|
Car2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 4
|
CLCN7*
|
Clcn7*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 5
|
OSTM1*
|
Ostm1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 6
|
PLEKHM1*
|
Plekhm1*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive pseudohypoaldosteronism type 1
|
SCNN1G*
|
Scnn1g*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive pseudohypoaldosteronism type 1
|
SCNN1B*
|
Scnn1b*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive spinocerebellar ataxia 13
|
GRM1*
|
Grm1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive spinocerebellar ataxia 16
|
STUB1*
|
Stub1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive spinocerebellar ataxia 18
|
GRID2*
|
Grid2*
|
2 models
|
HomoloGene and HGNC
|
|
Axenfeld-Rieger syndrome type 1
|
PITX2*
|
Pitx2*
|
8 models
|
HomoloGene and HGNC
|
|
Bamforth-Lazarus syndrome
|
FOXE1*
|
Foxe1*
|
1 model
|
HomoloGene and HGNC
|
|
Bannayan-Riley-Ruvalcaba syndrome
|
PTEN*
|
Pten*
|
3 models
|
HomoloGene and HGNC
|
|
Bartter disease type 1
|
SLC12A1*
|
Slc12a1*
|
2 models
|
HomoloGene and HGNC
|
|
Bartter disease type 2
|
KCNJ1*
|
Kcnj1*
|
1 model
|
HomoloGene and HGNC
|
|
Bartter disease type 3
|
CLCNKB*,
CLCNKA
|
Clcnkb*,
Clcnka
|
1 model
|
HGNC
|
|
Bartter disease type 4a
|
BSND*
|
Bsnd*
|
2 models
|
HomoloGene and HGNC
|
|
basal ganglia calcification
|
PDGFRB*
|
Pdgfrb*
|
1 model
|
HomoloGene and HGNC
|
|
basal ganglia calcification
|
SLC20A2*
|
Slc20a2*
|
1 model
|
HomoloGene and HGNC
|
|
Becker muscular dystrophy
|
DMD*
|
Dmd*
|
1 model
|
HomoloGene and HGNC
|
|
benign neonatal seizures
|
KCNQ3*
|
Kcnq3*
|
5 models
|
HomoloGene and HGNC
|
|
benign neonatal seizures
|
KCNQ2*
|
Kcnq2*
|
5 models
|
HomoloGene and HGNC
|
|
Bernard-Soulier syndrome
|
GP1BA*
|
Gp1ba*
|
1 model
|
HomoloGene and HGNC
|
|
Bernard-Soulier syndrome
|
GP1BB*
|
Gp1bb*
|
4 models
|
HomoloGene and HGNC
|
|
bestrophinopathy
|
BEST1*
|
Best1*
|
2 models
|
HomoloGene and HGNC
|
|
Bethlem myopathy
|
COL6A1*
|
Col6a1*
|
1 model
|
HomoloGene and HGNC
|
|
Bietti crystalline corneoretinal dystrophy
|
CYP4V2*
|
Cyp4v3*
|
1 model
|
HomoloGene and HGNC
|
|
biotin-responsive basal ganglia disease
|
SLC19A3*
|
Slc19a3*
|
2 models
|
HomoloGene and HGNC
|
|
Birt-Hogg-Dube syndrome
|
FLCN*
|
Flcn*
|
2 models
|
HomoloGene and HGNC
|
|
Bloch-Sulzberger syndrome
|
IKBKG*
|
Ikbkg*
|
2 models
|
HomoloGene and HGNC
|
|
blue cone monochromacy
|
OPN1LW*
|
Opn1mw*
|
1 model
|
HomoloGene
|
|
Bothnia retinal dystrophy
|
RLBP1*
|
Rlbp1*
|
1 model
|
HomoloGene and HGNC
|
|
brachydactyly type A1
|
IHH*
|
Ihh*
|
1 model
|
HomoloGene and HGNC
|
|
brachydactyly type A1C
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
brachydactyly type A2
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
brachydactyly type C
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
breast cancer
|
TP53*
|
Trp53*
|
14 models
|
HomoloGene and HGNC
|
|
breast cancer
|
PIK3CA*
|
Pik3ca*
|
5 models
|
HomoloGene and HGNC
|
|
breast cancer
|
ESR1*
|
Esr1*
|
1 model
|
HomoloGene and HGNC
|
|
breast cancer
|
BRCA2*
|
Brca2*
|
6 models
|
HomoloGene and HGNC
|
|
breast cancer
|
BRCA1*
|
Brca1*
|
11 models
|
HomoloGene and HGNC
|
|
breast cancer
|
BARD1*
|
Bard1*
|
3 models
|
HomoloGene and HGNC
|
|
Brugada syndrome 1
|
SCN5A*
|
Scn5a*
|
2 models
|
HomoloGene and HGNC
|
|
Brugada syndrome 7
|
SCN3B*
|
Scn3b*
|
1 model
|
HomoloGene and HGNC
|
|
bullous congenital ichthyosiform erythroderma
|
KRT2*
|
Krt2*
|
2 models
|
HGNC
|
|
buphthalmos
|
CYP1B1*
|
Cyp1b1*
|
4 models
|
HomoloGene and HGNC
|
|
Burkitt lymphoma
|
MYC*
|
Myc*
|
5 models
|
HomoloGene and HGNC
|
|
CADASIL 1
|
NOTCH3*
|
Notch3*
|
8 models
|
HomoloGene and HGNC
|
|
campomelic dysplasia
|
SOX9*
|
Sox9*
|
8 models
|
HomoloGene and HGNC
|
|
Canavan disease
|
ASPA*
|
Aspa*
|
4 models
|
HomoloGene and HGNC
|
|
Carpenter syndrome
|
MEGF8*
|
Megf8*
|
2 models
|
HomoloGene and HGNC
|
|
Carvajal syndrome
|
DSP*
|
Dsp*
|
1 model
|
HomoloGene and HGNC
|
|
cataract 10 multiple types
|
CRYBA1*
|
Cryba1*
|
2 models
|
HomoloGene and HGNC
|
|
cataract 14 multiple types
|
GJA3*
|
Gja3*
|
2 models
|
HomoloGene and HGNC
|
|
cataract 15 multiple types
|
MIP*
|
Mip*
|
7 models
|
HomoloGene and HGNC
|
|
cataract 16 multiple types
|
CRYAB*
|
Cryab*
|
1 model
|
HomoloGene and HGNC
|
|
cataract 19 multiple types
|
LIM2*
|
Lim2*
|
4 models
|
HomoloGene and HGNC
|
|
cataract 1 multiple types
|
GJA8*
|
Gja8*
|
4 models
|
HomoloGene and HGNC
|
|
cataract 20 multiple types
|
CRYGS*
|
Crygs*
|
3 models
|
HomoloGene and HGNC
|
|
cataract 21 multiple types
|
MAF*
|
Maf*
|
1 model
|
HomoloGene and HGNC
|
|
cataract 2 multiple types
|
CRYGC*
|
Crygc*
|
3 models
|
HomoloGene and HGNC
|
|
cataract 30
|
VIM*
|
Vim*
|
1 model
|
HomoloGene and HGNC
|
|
cataract 39 multiple types
|
CRYGB*
|
Crygb*
|
6 models
|
HomoloGene and HGNC
|
|
cataract 3 multiple types
|
CRYBB2*
|
Crybb2*
|
3 models
|
HomoloGene and HGNC
|
|
cataract 4 multiple types
|
CRYGD*
|
Crygd*
|
2 models
|
HomoloGene and HGNC
|
|
cataract 5 multiple types
|
HSF4*
|
Hsf4*
|
2 models
|
HomoloGene and HGNC
|
|
cataract 6 multiple types
|
EPHA2*
|
Epha2*
|
1 model
|
HomoloGene and HGNC
|
|
cataract 9 multiple types
|
CRYAA*
|
Cryaa*
|
9 models
|
HGNC
|
|
catecholaminergic polymorphic ventricular tachycardia 1
|
RYR2*
|
Ryr2*
|
10 models
|
HomoloGene and HGNC
|
|
catecholaminergic polymorphic ventricular tachycardia 2
|
CASQ2*
|
Casq2*
|
4 models
|
HomoloGene and HGNC
|
|
Cayman type cerebellar ataxia
|
ATCAY*
|
Atcay*
|
3 models
|
HomoloGene and HGNC
|
|
central core myopathy
|
RYR1*
|
Ryr1*
|
3 models
|
HomoloGene and HGNC
|
|
cerebral cavernous malformation 2
|
CCM2*
|
Ccm2*
|
4 models
|
HomoloGene and HGNC
|
|
cerebral cavernous malformation 3
|
PDCD10*
|
Pdcd10*
|
2 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease axonal type 2K
|
GDAP1*
|
Gdap1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease axonal type 2O
|
DYNC1H1*
|
Dync1h1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease axonal type 2P
|
LRSAM1*
|
Lrsam1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease axonal type 2Q
|
DHTKD1*
|
Dhtkd1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease recessive intermediate D
|
COX6A1*
|
Cox6a1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 1A
|
PMP22*
|
Pmp22*
|
9 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 1B
|
MPZ*
|
Mpz*
|
10 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 1E
|
PMP22*
|
Pmp22*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 2A1
|
KIF1B*
|
Kif1b*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 2A2A
|
MFN2*
|
Mfn2*
|
5 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 2B1
|
LMNA*
|
Lmna*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 2D
|
GARS1*
|
Gars*
|
4 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 2E
|
NEFL*
|
Nefl*
|
3 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 3
|
MPZ*
|
Mpz*
|
3 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 3
|
PMP22*
|
Pmp22*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4B1
|
MTMR2*
|
Mtmr2*
|
2 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4B2
|
SBF2*
|
Sbf2*
|
2 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4C
|
SH3TC2*
|
Sh3tc2*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4D
|
NDRG1*
|
Ndrg1*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4E
|
EGR2*
|
Egr2*
|
2 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4H
|
FGD4*
|
Fgd4*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 4J
|
FIG4*
|
Fig4*
|
2 models
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease type 6
|
SLC25A46*
|
Slc25a46*
|
1 model
|
HomoloGene and HGNC
|
|
Charcot-Marie-Tooth disease X-linked dominant 1
|
GJB1*
|
Gjb1*
|
4 models
|
HomoloGene and HGNC
|
|
Charlevoix-Saguenay spastic ataxia
|
SACS*
|
Sacs*
|
2 models
|
HGNC
|
|
Char syndrome
|
TFAP2B*
|
Tfap2b*
|
1 model
|
HomoloGene and HGNC
|
|
cherubism
|
SH3BP2*
|
Sh3bp2*
|
2 models
|
HomoloGene and HGNC
|
|
cholecystitis
|
ABCB4*
|
Abcb4*
|
1 model
|
HomoloGene and HGNC
|
|
choreaacanthocytosis
|
VPS13A*
|
Vps13a*
|
1 model
|
HomoloGene and HGNC
|
|
choroideremia
|
CHM*
|
Chm*
|
4 models
|
HomoloGene and HGNC
|
|
CINCA Syndrome
|
NLRP3*
|
Nlrp3*
|
1 model
|
HomoloGene and HGNC
|
|
cleidocranial dysplasia
|
RUNX2*
|
Runx2*
|
4 models
|
HomoloGene and HGNC
|
|
clubfoot
|
PITX1*
|
Pitx1*
|
1 model
|
HomoloGene and HGNC
|
|
COL4A1-related familial vascular leukoencephalopathy
|
COL4A1*
|
Col4a1*
|
1 model
|
HomoloGene and HGNC
|
|
common variable immunodeficiency
|
NFKB2*
|
Nfkb2*
|
3 models
|
HomoloGene and HGNC
|
|
common variable immunodeficiency
|
ICOS*
|
Icos*
|
2 models
|
HomoloGene and HGNC
|
|
complement component 3 deficiency
|
C3*
|
C3*
|
3 models
|
HomoloGene and HGNC
|
|
complex cortical dysplasia with other brain malformations 7
|
TUBB2B*
|
Tubb2b*
|
1 model
|
HomoloGene and HGNC
|
|
Compton-North congenital myopathy
|
CNTN1*
|
Cntn1*
|
3 models
|
HomoloGene and HGNC
|
|
cone-rod dystrophy 16
|
C8orf37*
|
2610301B20Rik*
|
1 model
|
HomoloGene and HGNC
|
|
cone-rod dystrophy 18
|
RAB28*
|
Rab28*
|
2 models
|
HomoloGene and HGNC
|
|
cone-rod dystrophy 3
|
ABCA4*
|
Abca4*
|
2 models
|
HomoloGene and HGNC
|
|
cone-rod dystrophy 6
|
GUCY2D*
|
Gucy2e*
|
3 models
|
HomoloGene and HGNC
|
|
cone-rod dystrophy 9
|
ADAM9*
|
Adam9*
|
1 model
|
HomoloGene and HGNC
|
|
congenital afibrinogenemia
|
FGG*
|
Fgg*
|
1 model
|
HomoloGene and HGNC
|
|
congenital amegakaryocytic thrombocytopenia
|
MPL*
|
Mpl*
|
1 model
|
HomoloGene and HGNC
|
|
congenital central hypoventilation syndrome
|
PHOX2B*
|
Phox2b*
|
1 model
|
HomoloGene and HGNC
|
|
congenital diaphragmatic hernia
|
ZFPM2*
|
Zfpm2*
|
1 model
|
HomoloGene and HGNC
|
|
congenital diarrhea 5 with tufting enteropathy
|
EPCAM*
|
Epcam*
|
1 model
|
HomoloGene and HGNC
|
|
congenital fibrosis of the extraocular muscles
|
KIF21A*
|
Kif21a*
|
3 models
|
HomoloGene and HGNC
|
|
congenital fibrosis of the extraocular muscles
|
TUBB3*
|
Tubb3*
|
1 model
|
HomoloGene and HGNC
|
|
congenital generalized lipodystrophy type 1
|
AGPAT2*
|
Agpat2*
|
1 model
|
HomoloGene and HGNC
|
|
congenital generalized lipodystrophy type 2
|
BSCL2*
|
Bscl2*
|
3 models
|
HomoloGene and HGNC
|
|
congenital generalized lipodystrophy type 4
|
CAVIN1*
|
Cavin1*
|
1 model
|
HomoloGene and HGNC
|
|
congenital hereditary endothelial dystrophy of cornea
|
SLC4A11*
|
Slc4a11*
|
1 model
|
HomoloGene and HGNC
|
|
congenital merosin-deficient muscular dystrophy 1A
|
LAMA2*
|
Lama2*
|
10 models
|
HomoloGene and HGNC
|
|
congenital muscular dystrophy due to integrin alpha-7 deficiency
|
ITGA7*
|
Itga7*
|
1 model
|
HomoloGene and HGNC
|
|
congenital muscular dystrophy due to LMNA mutation
|
LMNA*
|
Lmna*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 10
|
DOK7*
|
Dok7*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 11
|
RAPSN*
|
Rapsn*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 12
|
GFPT1*
|
Gfpt1*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 19
|
COL13A1*
|
Col13a1*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 3A
|
CHRND*
|
Chrnd*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 4A
|
CHRNE*
|
Chrne*
|
2 models
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 4C
|
CHRNE*
|
Chrne*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 5
|
COLQ*
|
Colq*
|
1 model
|
HGNC
|
|
congenital myasthenic syndrome 6
|
CHAT*
|
Chat*
|
2 models
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 8
|
AGRN*
|
Agrn*
|
1 model
|
HomoloGene and HGNC
|
|
congenital myasthenic syndrome 9
|
MUSK*
|
Musk*
|
3 models
|
HomoloGene and HGNC
|
|
congenital nonspherocytic hemolytic anemia
|
GPI*
|
Gpi1*
|
2 models
|
HomoloGene and HGNC
|
|
congenital secretory chloride diarrhea 1
|
SLC26A3*
|
Slc26a3*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 1A
|
NYX*
|
Nyx*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 1B
|
GRM6*
|
Grm6*
|
2 models
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 1D
|
SLC24A1*
|
Slc24a1*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 1E
|
GPR179*
|
Gpr179*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 1F
|
LRIT3*
|
Lrit3*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness 2A
|
CACNA1F*
|
Cacna1f*
|
12 models
|
HomoloGene and HGNC
|
|
congenital stationary night blindness autosomal dominant 1
|
RHO*
|
Rho*
|
1 model
|
HomoloGene and HGNC
|
|
congenital stationary night blindness autosomal dominant 2
|
PDE6B*
|
Pde6b*
|
14 models
|
HomoloGene and HGNC
|
|
congenital stromal corneal dystrophy
|
DCN*
|
Dcn*
|
1 model
|
HomoloGene and HGNC
|
|
cornea plana
|
KERA*
|
Kera*
|
1 model
|
HomoloGene and HGNC
|
|
cortical dysplasia-focal epilepsy syndrome
|
CNTNAP2*
|
Cntnap2*
|
1 model
|
HomoloGene
|
|
corticosteroid-binding globulin deficiency
|
SERPINA6*
|
Serpina6*
|
2 models
|
HomoloGene and HGNC
|
|
cortisone reductase deficiency 2
|
HSD11B1*
|
Hsd11b1*
|
1 model
|
HomoloGene and HGNC
|
|
craniometaphyseal dysplasia
|
ANKH*
|
Ank*
|
1 model
|
HomoloGene and HGNC
|
|
craniosynostosis
|
MSX2*
|
Msx2*
|
3 models
|
HomoloGene and HGNC
|
|
Creutzfeldt-Jakob disease
|
PRNP*
|
Prnp*
|
8 models
|
HomoloGene and HGNC
|
|
Crouzon syndrome
|
FGFR2*
|
Fgfr2*
|
4 models
|
HomoloGene and HGNC
|
|
cryptorchidism
|
INSL3*
|
Insl3*
|
5 models
|
HomoloGene and HGNC
|
|
cutaneous porphyria
|
UROS*
|
Uros*
|
3 models
|
HomoloGene and HGNC
|
|
cystinuria
|
SLC7A9*
|
Slc7a9*
|
2 models
|
HomoloGene and HGNC
|
|
cystinuria
|
SLC3A1*
|
Slc3a1*
|
4 models
|
HomoloGene and HGNC
|
|
Dent disease
|
CLCN5*
|
Clcn5*
|
2 models
|
HomoloGene and HGNC
|
|
dentinogenesis imperfecta
|
DSPP*
|
Dspp*
|
1 model
|
HGNC
|
|
diastrophic dysplasia
|
SLC26A2*
|
Slc26a2*
|
1 model
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1A
|
LMNA*
|
Lmna*
|
5 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1C
|
LDB3*
|
Ldb3*
|
3 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1D
|
TNNT2*
|
Tnnt2*
|
5 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1E
|
SCN5A*
|
Scn5a*
|
3 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1EE
|
MYH6*
|
Myh6*
|
2 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1G
|
TTN*
|
Ttn*
|
1 model
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1HH
|
BAG3*
|
Bag3*
|
2 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1I
|
DES*
|
Des*
|
1 model
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1L
|
SGCD*
|
Sgcd*
|
5 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1M
|
CSRP3*
|
Csrp3*
|
1 model
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1P
|
PLN*
|
Pln*
|
2 models
|
HGNC
|
|
dilated cardiomyopathy 1R
|
ACTC1*
|
Actc1*
|
2 models
|
HomoloGene and HGNC
|
|
dilated cardiomyopathy 1Y
|
TPM1*
|
Tpm1*
|
3 models
|
HGNC
|
|
distal hereditary motor neuronopathy type 2A
|
HSPB8*
|
Hspb8*
|
1 model
|
HomoloGene and HGNC
|
|
distal spinal muscular atrophy 1
|
IGHMBP2*
|
Ighmbp2*
|
1 model
|
HomoloGene and HGNC
|
|
DNA ligase IV deficiency
|
LIG4*
|
Lig4*
|
2 models
|
HomoloGene and HGNC
|
|
dopamine beta-hydroxylase deficiency
|
DBH*
|
Dbh*
|
1 model
|
HomoloGene and HGNC
|
|
Doyne honeycomb retinal dystrophy
|
EFEMP1*
|
Efemp1*
|
4 models
|
HomoloGene and HGNC
|
|
Dravet syndrome
|
SCN1A*
|
Scn1a*
|
8 models
|
HomoloGene and HGNC
|
|
Duane retraction syndrome
|
CHN1*
|
Chn1*
|
1 model
|
HomoloGene and HGNC
|
|
Duchenne muscular dystrophy
|
DMD*
|
Dmd*
|
27 models
|
HomoloGene and HGNC
|
|
early infantile epileptic encephalopathy 16
|
TBC1D24*
|
Tbc1d24*
|
1 model
|
HomoloGene and HGNC
|
|
early infantile epileptic encephalopathy 17
|
GNAO1*
|
Gnao1*
|
3 models
|
HomoloGene and HGNC
|
|
early infantile epileptic encephalopathy 39
|
SLC25A12*
|
Slc25a12*
|
1 model
|
HomoloGene and HGNC
|
|
enhanced S-cone syndrome
|
NR2E3*
|
Nr2e3*
|
2 models
|
HomoloGene and HGNC
|
|
epidermolysis bullosa simplex
|
KRT14*
|
Krt14*
|
2 models
|
HomoloGene and HGNC
|
|
epidermolysis bullosa simplex Dowling-Meara type
|
KRT5*
|
Krt5*
|
1 model
|
HomoloGene and HGNC
|
|
epidermolysis bullosa simplex Dowling-Meara type
|
KRT14*
|
Krt14*
|
3 models
|
HomoloGene and HGNC
|
|
epidermolysis bullosa simplex Ogna type
|
PLEC*
|
Plec*
|
4 models
|
HomoloGene and HGNC
|
|
epidermolytic hyperkeratosis
|
KRT10*
|
Krt10*
|
2 models
|
HGNC
|
|
epidermolytic hyperkeratosis
|
KRT1*
|
Krt1*
|
1 model
|
HomoloGene and HGNC
|
|
episodic ataxia type 1
|
KCNA1*
|
Kcna1*
|
1 model
|
HomoloGene and HGNC
|
|
episodic ataxia type 2
|
CACNA1A*
|
Cacna1a*
|
3 models
|
HomoloGene and HGNC
|
|
essential hypertension
|
NOS3*
|
Nos3*
|
3 models
|
HomoloGene and HGNC
|
|
essential thrombocythemia
|
JAK2*
|
Jak2*
|
4 models
|
HomoloGene and HGNC
|
|
exfoliation syndrome
|
LOXL1*
|
Loxl1*
|
1 model
|
HomoloGene and HGNC
|
|
factor VIII deficiency
|
F8*
|
F8*
|
2 models
|
HomoloGene and HGNC
|
|
factor XI deficiency
|
F11*
|
F11*
|
1 model
|
HomoloGene and HGNC
|
|
factor XII deficiency
|
F12*
|
F12*
|
1 model
|
HomoloGene and HGNC
|
|
factor XIII deficiency
|
F13A1*
|
F13a1*
|
2 models
|
HomoloGene and HGNC
|
|
familial cold autoinflammatory syndrome 1
|
NLRP3*
|
Nlrp3*
|
2 models
|
HomoloGene and HGNC
|
|
familial cold autoinflammatory syndrome 4
|
NLRC4*
|
Nlrc4*
|
1 model
|
HomoloGene and HGNC
|
|
familial encephalopathy with neuroserpin inclusion bodies
|
SERPINI1*
|
Serpini1*
|
3 models
|
HomoloGene and HGNC
|
|
familial erythrocytosis 2
|
VHL*
|
Vhl*
|
1 model
|
HomoloGene and HGNC
|
|
familial hemophagocytic lymphohistiocytosis 2
|
PRF1*
|
Prf1*
|
1 model
|
HomoloGene and HGNC
|
|
familial hemophagocytic lymphohistiocytosis 3
|
UNC13D*
|
Unc13d*
|
1 model
|
HomoloGene and HGNC
|
|
familial hemophagocytic lymphohistiocytosis 4
|
STX11*
|
Stx11*
|
1 model
|
HomoloGene and HGNC
|
|
familial juvenile hyperuricemic nephropathy
|
UMOD*
|
Umod*
|
2 models
|
HomoloGene and HGNC
|
|
familial Mediterranean fever
|
MEFV*
|
Mefv*
|
4 models
|
HomoloGene and HGNC
|
|
familial temporal lobe epilepsy 1
|
LGI1*
|
Lgi1*
|
4 models
|
HomoloGene and HGNC
|
|
Fanconi anemia complementation group A
|
FANCA*
|
Fanca*
|
3 models
|
HomoloGene and HGNC
|
|
Fanconi anemia complementation group C
|
FANCC*
|
Fancc*
|
2 models
|
HomoloGene and HGNC
|
|
Fanconi anemia complementation group D1
|
BRCA2*
|
Brca2*
|
1 model
|
HomoloGene and HGNC
|
|
Fanconi anemia complementation group D2
|
FANCD2*
|
Fancd2*
|
6 models
|
HomoloGene and HGNC
|
|
fatal familial insomnia
|
PRNP*
|
Prnp*
|
1 model
|
HomoloGene and HGNC
|
|
fibrodysplasia ossificans progressiva
|
ACVR1*
|
Acvr1*
|
4 models
|
HomoloGene and HGNC
|
|
fibular hypoplasia and complex brachydactyly
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
focal segmental glomerulosclerosis 1
|
ACTN4*
|
Actn4*
|
1 model
|
HomoloGene and HGNC
|
|
focal segmental glomerulosclerosis 2
|
TRPC6*
|
Trpc6*
|
3 models
|
HomoloGene and HGNC
|
|
fragile X-associated tremor/ataxia syndrome
|
FMR1*
|
Fmr1*
|
4 models
|
HomoloGene and HGNC
|
|
Fuchs' endothelial dystrophy
|
COL8A2*
|
Col8a2*
|
3 models
|
HomoloGene and HGNC
|
|
Fuhrmann syndrome
|
WNT7A*
|
Wnt7a*
|
2 models
|
HomoloGene and HGNC
|
|
Fukuyama congenital muscular dystrophy
|
FKTN*
|
Fktn*
|
6 models
|
HomoloGene and HGNC
|
|
gastrointestinal stromal tumor
|
KIT*
|
Kit*
|
5 models
|
HomoloGene and HGNC
|
|
geleophysic dysplasia 1
|
ADAMTSL2*
|
Adamtsl2*
|
1 model
|
HomoloGene and HGNC
|
|
Gerstmann-Straussler-Scheinker syndrome
|
PRNP*
|
Prnp*
|
7 models
|
HomoloGene and HGNC
|
|
giant axonal neuropathy 1
|
GAN*
|
Gan*
|
2 models
|
HomoloGene and HGNC
|
|
Gitelman syndrome
|
SLC12A3*
|
Slc12a3*
|
1 model
|
HomoloGene and HGNC
|
|
Glanzmann's thrombasthenia
|
ITGB3*
|
Itgb3*
|
1 model
|
HomoloGene and HGNC
|
|
gray platelet syndrome
|
NBEAL2*
|
Nbeal2*
|
3 models
|
HomoloGene and HGNC
|
|
Greig cephalopolysyndactyly syndrome
|
GLI3*
|
Gli3*
|
1 model
|
HomoloGene and HGNC
|
|
Griscelli syndrome type 1
|
MYO5A*
|
Myo5a*
|
2 models
|
HomoloGene and HGNC
|
|
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
|
GRN*
|
Grn*
|
3 models
|
HomoloGene and HGNC
|
|
gyrate atrophy
|
OAT*
|
Oat*
|
3 models
|
HomoloGene and HGNC
|
|
Hajdu-Cheney syndrome
|
NOTCH2*
|
Notch2*
|
3 models
|
HomoloGene and HGNC
|
|
hemophilia B
|
F9*
|
F9*
|
5 models
|
HomoloGene and HGNC
|
|
hepatocellular carcinoma
|
APC*
|
Apc*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary elliptocytosis
|
EPB41*
|
Epb41*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary hemorrhagic telangiectasia
|
ENG*
|
Eng*
|
6 models
|
HomoloGene and HGNC
|
|
hereditary hemorrhagic telangiectasia
|
ACVRL1*
|
Acvrl1*
|
5 models
|
HomoloGene and HGNC
|
|
hereditary mucosal leukokeratosis
|
KRT4*
|
Krt4*
|
2 models
|
HomoloGene and HGNC
|
|
hereditary multiple exostoses
|
EXT2*
|
Ext2*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary multiple exostoses
|
EXT1*
|
Ext1*
|
5 models
|
HomoloGene and HGNC
|
|
hereditary neuropathy with liability to pressure palsies
|
PMP22*
|
Pmp22*
|
3 models
|
HomoloGene and HGNC
|
|
hereditary sensory and autonomic neuropathy type 6
|
DST*
|
Dst*
|
1 model
|
HGNC
|
|
hereditary spastic paraplegia 11
|
SPG11*
|
Spg11*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 13
|
HSPD1*
|
Hspd1*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 15
|
ZFYVE26*
|
Zfyve26*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 2
|
PLP1*
|
Plp1*
|
2 models
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 30
|
KIF1A*
|
Kif1a*
|
2 models
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 31
|
REEP1*
|
Reep1*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 35
|
FA2H*
|
Fa2h*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 4
|
SPAST*
|
Spast*
|
3 models
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 54
|
DDHD2*
|
Ddhd2*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spastic paraplegia 7
|
SPG7*
|
Spg7*
|
1 model
|
HomoloGene and HGNC
|
|
hereditary spherocytosis type 1
|
ANK1*
|
Ank1*
|
4 models
|
HomoloGene and HGNC
|
|
hereditary spherocytosis type 3
|
SPTA1*
|
Spta1*
|
5 models
|
HomoloGene and HGNC
|
|
hereditary spherocytosis type 4
|
SLC4A1*
|
Slc4a1*
|
1 model
|
HomoloGene and HGNC
|
|
holoprosencephaly 11
|
CDON*
|
Cdon*
|
8 models
|
HomoloGene and HGNC
|
|
holoprosencephaly 2
|
SIX3*
|
Six3*
|
4 models
|
HomoloGene and HGNC
|
|
holoprosencephaly 3
|
SHH*
|
Shh*
|
3 models
|
HomoloGene and HGNC
|
|
holoprosencephaly 5
|
ZIC2*
|
Zic2*
|
3 models
|
HomoloGene and HGNC
|
|
Huntington's disease
|
HTT*
|
Htt*
|
55 models
|
HomoloGene and HGNC
|
|
hyperekplexia 1
|
GLRA1*
|
Glra1*
|
6 models
|
HomoloGene and HGNC
|
|
hyperekplexia 2
|
GLRB*
|
Glrb*
|
1 model
|
HomoloGene and HGNC
|
|
hyperekplexia 3
|
SLC6A5*
|
Slc6a5*
|
2 models
|
HomoloGene and HGNC
|
|
hyper IgE recurrent infection syndrome 1
|
STAT3*
|
Stat3*
|
1 model
|
HomoloGene and HGNC
|
|
hyperparathyroidism
|
CDC73*
|
Cdc73*
|
3 models
|
HomoloGene and HGNC
|
|
hypertrichotic osteochondrodysplasia Cantu type
|
ABCC9*
|
Abcc9*
|
2 models
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 12
|
CSRP3*
|
Csrp3*
|
1 model
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 13
|
TNNC1*
|
Tnnc1*
|
2 models
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 14
|
MYH6*
|
Myh6*
|
11 models
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 2
|
TNNT2*
|
Tnnt2*
|
9 models
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 20
|
NEXN*
|
Nexn*
|
1 model
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 3
|
TPM1*
|
Tpm1*
|
2 models
|
HGNC
|
|
hypertrophic cardiomyopathy 4
|
MYBPC3*
|
Mybpc3*
|
9 models
|
HomoloGene and HGNC
|
|
hypertrophic cardiomyopathy 7
|
TNNI3*
|
Tnni3*
|
5 models
|
HomoloGene and HGNC
|
|
hypogonadotropic hypogonadism 11 with or without anosmia
|
TACR3*
|
Tacr3*
|
1 model
|
HomoloGene and HGNC
|
|
hypogonadotropic hypogonadism 12 with or without anosmia
|
GNRH1*
|
Gnrh1*
|
1 model
|
HomoloGene and HGNC
|
|
hypogonadotropic hypogonadism 13 with or without anosmia
|
KISS1*
|
Kiss1*
|
2 models
|
HomoloGene and HGNC
|
|
hypogonadotropic hypogonadism 7 with or without anosmia
|
GNRHR*
|
Gnrhr*
|
1 model
|
HomoloGene and HGNC
|
|
hypogonadotropic hypogonadism 8 with or without anosmia
|
KISS1R*
|
Kiss1r*
|
4 models
|
HomoloGene and HGNC
|
|
hypomyelinating leukodystrophy 2
|
GJC2*
|
Gjc2*
|
3 models
|
HomoloGene and HGNC
|
|
hypopituitarism
|
PROP1*
|
Prop1*
|
2 models
|
HomoloGene and HGNC
|
|
hypopituitarism
|
LHX3*
|
Lhx3*
|
1 model
|
HomoloGene and HGNC
|
|
hypoplastic left heart syndrome
|
NKX2-5*
|
Nkx2-5*
|
2 models
|
HomoloGene and HGNC
|
|
hypotrichosis 13
|
KRT71*
|
Krt71*
|
1 model
|
HomoloGene and HGNC
|
|
hypotrichosis 4
|
HR*
|
Hr*
|
1 model
|
HomoloGene and HGNC
|
|
hypotrichosis 6
|
DSG4*
|
Dsg4*
|
3 models
|
HomoloGene and HGNC
|
|
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
|
FOXP3*
|
Foxp3*
|
2 models
|
HomoloGene and HGNC
|
|
infantile myofibromatosis
|
PDGFRB*
|
Pdgfrb*
|
1 model
|
HomoloGene and HGNC
|
|
inflammatory bowel disease 1
|
NOD2*
|
Nod2*
|
1 model
|
HomoloGene and HGNC
|
|
inflammatory bowel disease 10
|
ATG16L1*
|
Atg16l1*
|
2 models
|
HomoloGene and HGNC
|
|
inflammatory bowel disease 13
|
ABCB1*
|
Abcb1a*
|
1 model
|
HomoloGene and HGNC
|
|
isolated anhidrosis with normal sweat glands
|
ITPR2*
|
Itpr2*
|
1 model
|
HomoloGene and HGNC
|
|
isolated growth hormone deficiency type II
|
GH1*
|
Gh*
|
2 models
|
HGNC
|
|
isolated microphthalmia 6
|
PRSS56*
|
Prss56*
|
3 models
|
HomoloGene and HGNC
|
|
Jervell-Lange Nielsen syndrome
|
KCNE1*
|
Kcne1*
|
2 models
|
HGNC
|
|
Jervell-Lange Nielsen syndrome
|
KCNQ1*
|
Kcnq1*
|
3 models
|
HomoloGene and HGNC
|
|
Joubert syndrome 17
|
CPLANE1*
|
Cplane1*
|
1 model
|
HomoloGene and HGNC
|
|
Joubert syndrome 26
|
KATNIP*
|
D430042O09Rik*
|
1 model
|
HomoloGene and HGNC
|
|
Joubert syndrome 3
|
AHI1*
|
Ahi1*
|
1 model
|
HomoloGene and HGNC
|
|
Joubert syndrome 5
|
CEP290*
|
Cep290*
|
2 models
|
HomoloGene and HGNC
|
|
Joubert syndrome 6
|
TMEM67*
|
Tmem67*
|
1 model
|
HomoloGene and HGNC
|
|
Joubert syndrome 7
|
RPGRIP1L*
|
Rpgrip1l*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa Herlitz type
|
LAMB3*
|
Lamb3*
|
2 models
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa Herlitz type
|
LAMC2*
|
Lamc2*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa non-Herlitz type
|
LAMA3*
|
Lama3*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa non-Herlitz type
|
LAMC2*
|
Lamc2*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa non-Herlitz type
|
LAMB3*
|
Lamb3*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa non-Herlitz type
|
COL17A1*
|
Col17a1*
|
1 model
|
HGNC
|
|
junctional epidermolysis bullosa non-Herlitz type
|
ITGB4*
|
Itgb4*
|
1 model
|
HomoloGene and HGNC
|
|
junctional epidermolysis bullosa with pyloric atresia
|
ITGB4*
|
Itgb4*
|
1 model
|
HomoloGene and HGNC
|
|
juvenile myelomonocytic leukemia
|
PTPN11*
|
Ptpn11*
|
1 model
|
HomoloGene and HGNC
|
|
juvenile myelomonocytic leukemia
|
NF1*
|
Nf1*
|
2 models
|
HomoloGene and HGNC
|
|
juvenile myoclonic epilepsy
|
EFHC1*
|
Efhc1*
|
2 models
|
HomoloGene and HGNC
|
|
juvenile polyposis syndrome
|
SMAD4*
|
Smad4*
|
1 model
|
HomoloGene and HGNC
|
|
juvenile polyposis syndrome
|
BMPR1A*
|
Bmpr1a*
|
1 model
|
HomoloGene and HGNC
|
|
juvenile spinal muscular atrophy
|
SMN1*,
SMN2*
|
Smn1*
|
2 models
|
HomoloGene and HGNC
|
|
karyomegalic interstitial nephritis
|
FAN1*
|
Fan1*
|
3 models
|
HomoloGene and HGNC
|
|
keratosis follicularis
|
ATP2A2*
|
Atp2a2*
|
1 model
|
HomoloGene and HGNC
|
|
Kindler syndrome
|
FERMT1*
|
Fermt1*
|
1 model
|
HomoloGene and HGNC
|
|
Kufor-Rakeb syndrome
|
ATP13A2*
|
Atp13a2*
|
1 model
|
HomoloGene and HGNC
|
|
L-2-hydroxyglutaric aciduria
|
L2HGDH*
|
L2hgdh*
|
1 model
|
HomoloGene and HGNC
|
|
Lafora disease
|
NHLRC1*
|
Nhlrc1*
|
3 models
|
HomoloGene and HGNC
|
|
Lafora disease
|
EPM2A*
|
Epm2a*
|
1 model
|
HomoloGene and HGNC
|
|
late-onset retinal degeneration
|
C1QTNF5*
|
C1qtnf5*
|
1 model
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 1
|
GUCY2D*
|
Gucy2e*
|
3 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 10
|
CEP290*
|
Cep290*
|
3 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 12
|
RD3*
|
Rd3*
|
1 model
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 14
|
LRAT*
|
Lrat*
|
1 model
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 2
|
RPE65*
|
Rpe65*
|
4 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 3
|
SPATA7*
|
Spata7*
|
2 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 4
|
AIPL1*
|
Aipl1*
|
5 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 5
|
LCA5*
|
Lca5*
|
1 model
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 6
|
RPGRIP1*
|
Rpgrip1*
|
3 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 7
|
CRX*
|
Crx*
|
2 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 8
|
CRB1*
|
Crb1*
|
3 models
|
HomoloGene and HGNC
|
|
Leber congenital amaurosis 9
|
NMNAT1*
|
Nmnat1*
|
2 models
|
HomoloGene and HGNC
|
|
Leber hereditary optic neuropathy
|
ND6*
|
mt-Nd6*
|
1 model
|
HomoloGene and HGNC
|
|
leukocyte adhesion deficiency 1
|
ITGB2*
|
Itgb2*
|
3 models
|
HomoloGene and HGNC
|
|
leukocyte adhesion deficiency 3
|
FERMT3*
|
Fermt3*
|
1 model
|
HomoloGene and HGNC
|
|
leukoencephalopathy with vanishing white matter
|
EIF2B5*
|
Eif2b5*
|
7 models
|
HomoloGene and HGNC
|
|
leukoencephalopathy with vanishing white matter
|
EIF2B4*
|
Eif2b4*
|
4 models
|
HomoloGene and HGNC
|
|
Liddle syndrome
|
SCNN1B*
|
Scnn1b*
|
1 model
|
HomoloGene and HGNC
|
|
lissencephaly
|
DCX*
|
Dcx*
|
1 model
|
HomoloGene and HGNC
|
|
lissencephaly
|
ARX*
|
Arx*
|
2 models
|
HomoloGene and HGNC
|
|
lissencephaly
|
PAFAH1B1*
|
Pafah1b1*
|
5 models
|
HomoloGene and HGNC
|
|
lissencephaly
|
TUBA1A*
|
Tuba1a*
|
1 model
|
HomoloGene and HGNC
|
|
long QT syndrome 1
|
KCNQ1*
|
Kcnq1*
|
3 models
|
HomoloGene and HGNC
|
|
long QT syndrome 3
|
SCN5A*
|
Scn5a*
|
4 models
|
HomoloGene and HGNC
|
|
lung cancer
|
KRAS*
|
Kras*
|
20 models
|
HomoloGene and HGNC
|
|
mal de Meleda
|
SLURP1*
|
Slurp1*
|
2 models
|
HomoloGene and HGNC
|
|
Marfan syndrome
|
FBN1*
|
Fbn1*
|
8 models
|
HomoloGene and HGNC
|
|
MASA syndrome
|
L1CAM*
|
L1cam*
|
1 model
|
HomoloGene and HGNC
|
|
mastocytosis
|
KIT*
|
Kit*
|
5 models
|
HomoloGene and HGNC
|
|
megaconial type congenital muscular dystrophy
|
CHKB*
|
Chkb*
|
1 model
|
HomoloGene and HGNC
|
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
MLC1*
|
Mlc1*
|
1 model
|
HomoloGene and HGNC
|
|
MHC class II deficiency
|
CIITA*
|
Ciita*
|
2 models
|
HomoloGene and HGNC
|
|
microcephalic osteodysplastic primordial dwarfism type II
|
PCNT*
|
Pcnt*
|
1 model
|
HGNC
|
|
microvillus inclusion disease
|
MYO5B*
|
Myo5b*
|
2 models
|
HomoloGene and HGNC
|
|
mitral valve prolapse
|
DCHS1*
|
Dchs1*
|
1 model
|
HomoloGene and HGNC
|
|
Muenke Syndrome
|
FGFR3*
|
Fgfr3*
|
6 models
|
HomoloGene and HGNC
|
|
multiple epiphyseal dysplasia 5
|
MATN3*
|
Matn3*
|
1 model
|
HomoloGene and HGNC
|
|
multiple synostoses syndrome
|
GDF5*
|
Gdf5*
|
1 model
|
HomoloGene and HGNC
|
|
multiple synostoses syndrome
|
FGF9*
|
Fgf9*
|
2 models
|
HomoloGene and HGNC
|
|
muscular dystrophy-dystroglycanopathy
|
POMGNT1*
|
Pomgnt1*
|
1 model
|
HomoloGene and HGNC
|
|
muscular dystrophy-dystroglycanopathy
|
POMT1*
|
Pomt1*
|
1 model
|
HomoloGene and HGNC
|
|
muscular dystrophy-dystroglycanopathy
|
FKTN*
|
Fktn*
|
3 models
|
HomoloGene and HGNC
|
|
muscular dystrophy-dystroglycanopathy type B5
|
FKRP*
|
Fkrp*
|
1 model
|
HomoloGene and HGNC
|
|
muscular dystrophy-dystroglycanopathy type B6
|
LARGE1*
|
Large1*
|
1 model
|
HomoloGene and HGNC
|
|
myelodysplastic syndrome
|
ASXL1*
|
Asxl1*
|
5 models
|
HomoloGene and HGNC
|
|
myelofibrosis
|
JAK2*
|
Jak2*
|
3 models
|
HomoloGene and HGNC
|
|
MYH-9 related disease
|
MYH9*
|
Myh9*
|
4 models
|
HomoloGene and HGNC
|
|
myoclonic dystonia 11
|
SGCE*
|
Sgce*
|
2 models
|
HomoloGene and HGNC
|
|
myofibrillar myopathy 1
|
DES*
|
Des*
|
4 models
|
HomoloGene and HGNC
|
|
myofibrillar myopathy 2
|
CRYAB*
|
Cryab*
|
4 models
|
HomoloGene and HGNC
|
|
myofibrillar myopathy 5
|
FLNC*
|
Flnc*
|
1 model
|
HomoloGene and HGNC
|
|
myostatin-related muscle hypertrophy
|
MSTN*
|
Mstn*
|
2 models
|
HomoloGene and HGNC
|
|
myotonia congenita
|
CLCN1*
|
Clcn1*
|
2 models
|
HomoloGene and HGNC
|
|
myotonic dystrophy type 1
|
DMPK*
|
Dmpk*
|
8 models
|
HomoloGene and HGNC
|
|
nemaline myopathy 10
|
LMOD3*
|
Lmod3*
|
2 models
|
HomoloGene and HGNC
|
|
nemaline myopathy 11
|
MYPN*
|
Mypn*
|
1 model
|
HomoloGene and HGNC
|
|
nemaline myopathy 2
|
NEB*
|
Neb*
|
4 models
|
HomoloGene and HGNC
|
|
nemaline myopathy 3
|
ACTA1*
|
Acta1*
|
4 models
|
HomoloGene and HGNC
|
|
nemaline myopathy 5
|
TNNT1*
|
Tnnt1*
|
1 model
|
HomoloGene and HGNC
|
|
nemaline myopathy 8
|
KLHL40*
|
Klhl40*
|
1 model
|
HomoloGene and HGNC
|
|
nephrogenic diabetes insipidus
|
AVPR2*
|
Avpr2*
|
2 models
|
HomoloGene and HGNC
|
|
nephrogenic diabetes insipidus
|
AQP2*
|
Aqp2*
|
4 models
|
HomoloGene and HGNC
|
|
nephronophthisis 2
|
INVS*
|
Invs*
|
1 model
|
HomoloGene and HGNC
|
|
nephronophthisis 3
|
NPHP3*
|
Nphp3*
|
2 models
|
HomoloGene and HGNC
|
|
nephronophthisis 4
|
NPHP4*
|
Nphp4*
|
1 model
|
HomoloGene and HGNC
|
|
nephronophthisis 7
|
GLIS2*
|
Glis2*
|
1 model
|
HomoloGene and HGNC
|
|
Netherton syndrome
|
SPINK5*
|
Spink5*
|
5 models
|
HomoloGene and HGNC
|
|
neurodegeneration with brain iron accumulation 2a
|
PLA2G6*
|
Pla2g6*
|
4 models
|
HomoloGene and HGNC
|
|
neurohypophyseal diabetes insipidus
|
AVP*
|
Avp*
|
2 models
|
HomoloGene and HGNC
|
|
ocular albinism
|
GPR143*
|
Gpr143*
|
1 model
|
HomoloGene and HGNC
|
|
oculopharyngeal muscular dystrophy
|
PABPN1*
|
Pabpn1*
|
3 models
|
HomoloGene and HGNC
|
|
Oguchi disease-2
|
GRK1*
|
Grk1*
|
1 model
|
HomoloGene and HGNC
|
|
Omenn syndrome
|
RAG2*
|
Rag2*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 1
|
COL1A1*
|
Col1a1*
|
2 models
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 10
|
SERPINH1*
|
Serpinh1*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 2
|
COL1A1*
|
Col1a1*
|
2 models
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 3
|
COL1A2*
|
Col1a2*
|
2 models
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 3
|
COL1A1*
|
Col1a1*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 4
|
COL1A1*
|
Col1a1*
|
3 models
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 6
|
SERPINF1*
|
Serpinf1*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 7
|
CRTAP*
|
Crtap*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 8
|
P3H1*
|
P3h1*
|
1 model
|
HomoloGene and HGNC
|
|
osteogenesis imperfecta type 9
|
PPIB*
|
Ppib*
|
2 models
|
HomoloGene and HGNC
|
|
osteopathia striata with cranial sclerosis
|
AMER1*
|
Amer1*
|
2 models
|
HomoloGene and HGNC
|
|
osteosarcoma
|
TP53*
|
Trp53*
|
8 models
|
HomoloGene and HGNC
|
|
otospondylomegaepiphyseal dysplasia, autosomal recessive
|
COL11A2*
|
Col11a2*
|
1 model
|
HomoloGene and HGNC
|
|
ovarian cancer
|
CTNNB1*
|
Ctnnb1*
|
6 models
|
HomoloGene and HGNC
|
|
Paget's disease of bone
|
SQSTM1*
|
Sqstm1*
|
3 models
|
HomoloGene and HGNC
|
|
pancreatic carcinoma
|
KRAS*
|
Kras*
|
15 models
|
HomoloGene and HGNC
|
|
Parkinson's disease 1
|
SNCA*
|
Snca*
|
23 models
|
HomoloGene and HGNC
|
|
Parkinson's disease 17
|
VPS35*
|
Vps35*
|
1 model
|
HomoloGene and HGNC
|
|
Parkinson's disease 2
|
PRKN*
|
Prkn*
|
10 models
|
HomoloGene and HGNC
|
|
Parkinson's disease 4
|
SNCA*
|
Snca*
|
1 model
|
HomoloGene and HGNC
|
|
Parkinson's disease 6
|
PINK1*
|
Pink1*
|
4 models
|
HomoloGene and HGNC
|
|
Parkinson's disease 7
|
PARK7*
|
Park7*
|
4 models
|
HomoloGene and HGNC
|
|
Parkinson's disease 8
|
LRRK2*
|
Lrrk2*
|
5 models
|
HomoloGene and HGNC
|
|
paroxysmal nonkinesigenic dyskinesia 1
|
PNKD*
|
Pnkd*
|
2 models
|
HomoloGene and HGNC
|
|
patterned macular dystrophy 1
|
PRPH2*
|
Prph2*
|
2 models
|
HomoloGene and HGNC
|
|
patterned macular dystrophy 2
|
CTNNA1*
|
Ctnna1*
|
2 models
|
HomoloGene and HGNC
|
|
Pelger-Huet anomaly
|
LBR*
|
Lbr*
|
1 model
|
HomoloGene and HGNC
|
|
Pelizaeus-Merzbacher disease
|
PLP1*
|
Plp1*
|
7 models
|
HomoloGene and HGNC
|
|
periventricular nodular heterotopia
|
FLNA*
|
Flna*
|
1 model
|
HomoloGene and HGNC
|
|
persistent Mullerian duct syndrome
|
AMHR2*
|
Amhr2*
|
1 model
|
HomoloGene and HGNC
|
|
Peutz-Jeghers syndrome
|
STK11*
|
Stk11*
|
9 models
|
HomoloGene and HGNC
|
|
Pfeiffer syndrome
|
FGFR1*
|
Fgfr1*
|
2 models
|
HomoloGene and HGNC
|
|
Pfeiffer syndrome
|
FGFR2*
|
Fgfr2*
|
1 model
|
HomoloGene and HGNC
|
|
piebaldism
|
KIT*
|
Kit*
|
1 model
|
HomoloGene and HGNC
|
|
platelet-type bleeding disorder 10
|
CD36*
|
Cd36*
|
1 model
|
HomoloGene and HGNC
|
|
platelet-type bleeding disorder 16
|
ITGA2B*
|
Itga2b*
|
1 model
|
HomoloGene and HGNC
|
|
platelet-type bleeding disorder 16
|
ITGB3*
|
Itgb3*
|
1 model
|
HomoloGene and HGNC
|
|
platelet-type bleeding disorder 8
|
P2RY12*
|
P2ry12*
|
2 models
|
HomoloGene and HGNC
|
|
polycystic kidney disease 1
|
PKD1*
|
Pkd1*
|
27 models
|
HomoloGene and HGNC
|
|
polycystic kidney disease 2
|
PKD2*
|
Pkd2*
|
7 models
|
HomoloGene and HGNC
|
|
polycystic liver disease
|
PRKCSH*
|
Prkcsh*
|
1 model
|
HomoloGene and HGNC
|
|
polycythemia vera
|
JAK2*
|
Jak2*
|
8 models
|
HomoloGene and HGNC
|
|
pontocerebellar hypoplasia type 10
|
CLP1*
|
Clp1*
|
1 model
|
HomoloGene and HGNC
|
|
primary autosomal recessive microcephaly 2 with or without cortical malformations
|
WDR62*
|
Wdr62*
|
1 model
|
HomoloGene and HGNC
|
|
primary pigmented nodular adrenocortical disease
|
PRKAR1A*
|
Prkar1a*
|
1 model
|
HomoloGene and HGNC
|
|
primary pulmonary hypertension
|
SMAD9*
|
Smad9*
|
1 model
|
HomoloGene and HGNC
|
|
primary pulmonary hypertension
|
BMPR2*
|
Bmpr2*
|
5 models
|
HomoloGene and HGNC
|
|
progressive familial heart block type IA
|
SCN5A*
|
Scn5a*
|
2 models
|
HomoloGene and HGNC
|
|
progressive pseudorheumatoid arthropathy of childhood
|
CCN6*
|
Ccn6*
|
3 models
|
HomoloGene and HGNC
|
|
prostate cancer
|
PTEN*
|
Pten*
|
19 models
|
HomoloGene and HGNC
|
|
prostate cancer
|
MSMB*
|
Msmb*
|
1 model
|
HomoloGene and HGNC
|
|
pseudoachondroplasia
|
COMP*
|
Comp*
|
3 models
|
HomoloGene and HGNC
|
|
pseudoxanthoma elasticum
|
ABCC6*
|
Abcc6*
|
2 models
|
HomoloGene and HGNC
|
|
psoriasis 2
|
CARD14*
|
Card14*
|
1 model
|
HomoloGene and HGNC
|
|
pulmonary alveolar proteinosis
|
ABCA3*
|
Abca3*
|
3 models
|
HomoloGene and HGNC
|
|
pulmonary alveolar proteinosis
|
CSF2RB*
|
Csf2rb*,
Csf2rb2
|
2 models
|
HomoloGene and HGNC
|
|
purine nucleoside phosphorylase deficiency
|
PNP*
|
Pnp*,
Pnp2
|
5 models
|
HomoloGene and HGNC
|
|
pyruvate kinase deficiency of red cells
|
PKLR*
|
Pklr*
|
2 models
|
HomoloGene and HGNC
|
|
recessive dystrophic epidermolysis bullosa
|
COL7A1*
|
Col7a1*
|
5 models
|
HomoloGene and HGNC
|
|
renal tubular acidosis
|
ATP6V0A4*
|
Atp6v0a4*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 1
|
RP1*
|
Rp1*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 11
|
PRPF31*
|
Prpf31*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 12
|
CRB1*
|
Crb1*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 13
|
PRPF8*
|
Prpf8*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 14
|
TULP1*
|
Tulp1*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 18
|
PRPF3*
|
Prpf3*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 19
|
ABCA4*
|
Abca4*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 2
|
RP2*
|
Rp2*
|
4 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 20
|
RPE65*
|
Rpe65*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 28
|
FAM161A*
|
Fam161a*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 3
|
RPGR*
|
Rpgr*
|
4 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 30
|
FSCN2*
|
Fscn2*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 4
|
RHO*
|
Rho*
|
14 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 40
|
PDE6B*
|
Pde6b*
|
9 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 41
|
PROM1*
|
Prom1*
|
2 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 54
|
PCARE*
|
Pcare*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 7
|
PRPH2*
|
Prph2*
|
3 models
|
HomoloGene and HGNC
|
|
retinitis pigmentosa 77
|
REEP6*
|
Reep6*
|
1 model
|
HomoloGene and HGNC
|
|
retinitis pigmentosa with or without situs inversus
|
ARL2BP*
|
Arl2bp*
|
1 model
|
HomoloGene and HGNC
|
|
rickets
|
CYP27B1*
|
Cyp27b1*
|
2 models
|
HomoloGene and HGNC
|
|
rickets
|
VDR*
|
Vdr*
|
4 models
|
HomoloGene and HGNC
|
|
rigid spine muscular dystrophy 1
|
SELENON*
|
Selenon*
|
1 model
|
HomoloGene and HGNC
|
|
Riley-Day syndrome
|
ELP1*
|
Elp1*
|
5 models
|
HomoloGene and HGNC
|
|
rippling muscle disease 2
|
CAV3*
|
Cav3*
|
3 models
|
HomoloGene and HGNC
|
|
Rothmund-Thomson syndrome
|
RECQL4*
|
Recql4*
|
3 models
|
HomoloGene and HGNC
|
|
Saethre-Chotzen syndrome
|
TWIST1*
|
Twist1*
|
8 models
|
HomoloGene and HGNC
|
|
scapuloperoneal myopathy
|
FHL1*
|
Fhl1*
|
1 model
|
HomoloGene and HGNC
|
|
Schimke immuno-osseous dysplasia
|
SMARCAL1*
|
Smarcal1*
|
1 model
|
HomoloGene and HGNC
|
|
Schmid metaphyseal chondrodysplasia
|
COL10A1*
|
Col10a1*
|
3 models
|
HomoloGene and HGNC
|
|
schneckenbecken dysplasia
|
SLC35D1*
|
Slc35d1*
|
1 model
|
HomoloGene and HGNC
|
|
Schnyder corneal dystrophy
|
UBIAD1*
|
Ubiad1*
|
2 models
|
HomoloGene and HGNC
|
|
sclerosteosis 1
|
SOST*
|
Sost*
|
1 model
|
HomoloGene and HGNC
|
|
sclerosteosis 2
|
LRP4*
|
Lrp4*
|
2 models
|
HomoloGene and HGNC
|
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
|
RAG2*
|
Rag2*
|
1 model
|
HomoloGene and HGNC
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
DCLRE1C*
|
Dclre1c*
|
2 models
|
HomoloGene and HGNC
|
|
short QT syndrome
|
KCNH2*
|
Kcnh2*
|
1 model
|
HomoloGene and HGNC
|
|
short-rib thoracic dysplasia 7 with or without polydactyly
|
WDR35*
|
Wdr35*
|
1 model
|
HomoloGene and HGNC
|
|
short-rib thoracic dysplasia 9 with or without polydactyly
|
IFT140*
|
Ift140*
|
1 model
|
HomoloGene and HGNC
|
|
sick sinus syndrome
|
SCN5A*
|
Scn5a*
|
2 models
|
HomoloGene and HGNC
|
|
Silverman-Handmaker type dyssegmental dysplasia
|
HSPG2*
|
Hspg2*
|
2 models
|
HomoloGene and HGNC
|
|
sitosterolemia
|
ABCG8*
|
Abcg8*
|
1 model
|
HomoloGene and HGNC
|
|
Smith-McCort dysplasia
|
DYM*
|
Dym*
|
1 model
|
HomoloGene and HGNC
|
|
Sorsby's fundus dystrophy
|
TIMP3*
|
Timp3*
|
2 models
|
HomoloGene and HGNC
|
|
SOST-related sclerosing bone dysplasia
|
SOST*
|
Sost*
|
3 models
|
HomoloGene and HGNC
|
|
spermatogenic failure 19
|
CFAP43*
|
Cfap43*
|
2 models
|
HomoloGene and HGNC
|
|
spermatogenic failure 20
|
CFAP44*
|
Cfap44*
|
1 model
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 1
|
ATXN1*
|
Atxn1*
|
3 models
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 17
|
TBP*
|
Tbp*
|
5 models
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 1 with axonal neuropathy
|
TDP1*
|
Tdp1*
|
1 model
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 2
|
ATXN2*
|
Atxn2*
|
2 models
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 27
|
FGF14*
|
Fgf14*
|
1 model
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 28
|
AFG3L2*
|
Afg3l2*
|
1 model
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 5
|
SPTBN2*
|
Sptbn2*
|
3 models
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 6
|
CACNA1A*
|
Cacna1a*
|
3 models
|
HomoloGene and HGNC
|
|
spinocerebellar ataxia type 7
|
ATXN7*
|
Atxn7*
|
11 models
|
HomoloGene and HGNC
|
|
split hand-foot malformation 1
|
DLX5*
|
Dlx5*
|
1 model
|
HomoloGene and HGNC
|
|
spondylocarpotarsal synostosis syndrome
|
FLNB*
|
Flnb*
|
2 models
|
HomoloGene and HGNC
|
|
spondylocostal dysostosis
|
DLL3*
|
Dll3*
|
1 model
|
HomoloGene and HGNC
|
|
spondylocostal dysostosis
|
TBX6*
|
Tbx6*
|
1 model
|
HomoloGene and HGNC
|
|
spondyloepimetaphyseal dysplasia, Pakistani type
|
PAPSS2*
|
Papss2*
|
1 model
|
HomoloGene and HGNC
|
|
spondyloepiphyseal dysplasia congenita
|
COL2A1*
|
Col2a1*
|
8 models
|
HomoloGene and HGNC
|
|
Stargardt disease
|
ELOVL4*
|
Elovl4*
|
5 models
|
HomoloGene and HGNC
|
|
Stargardt disease
|
ABCA4*
|
Abca4*
|
5 models
|
HomoloGene and HGNC
|
|
supravalvular aortic stenosis
|
ELN*
|
Eln*
|
2 models
|
HGNC
|
|
synpolydactyly
|
HOXD13*
|
Hoxd13*
|
3 models
|
HomoloGene and HGNC
|
|
systemic lupus erythematosus
|
FCGR2B*
|
Fcgr2b*
|
2 models
|
HomoloGene
|
|
systemic lupus erythematosus
|
DNASE1*
|
Dnase1*
|
2 models
|
HomoloGene and HGNC
|
|
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
|
FOXN1*
|
Foxn1*
|
4 models
|
HomoloGene and HGNC
|
|
tetralogy of Fallot
|
ZFPM2*
|
Zfpm2*
|
1 model
|
HomoloGene and HGNC
|
|
tetralogy of Fallot
|
NKX2-5*
|
Nkx2-5*
|
2 models
|
HomoloGene and HGNC
|
|
thanatophoric dysplasia
|
FGFR3*
|
Fgfr3*
|
4 models
|
HomoloGene and HGNC
|
|
thrombocytopenia
|
GATA1*
|
Gata1*
|
1 model
|
HomoloGene and HGNC
|
|
thrombophilia
|
THBD*
|
Thbd*
|
1 model
|
HomoloGene and HGNC
|
|
thyroid hormone resistance syndrome
|
THRB*
|
Thrb*
|
11 models
|
HomoloGene and HGNC
|
|
tibial muscular dystrophy
|
TTN*
|
Ttn*
|
1 model
|
HomoloGene and HGNC
|
|
tooth agenesis
|
MSX1*
|
Msx1*
|
3 models
|
HomoloGene and HGNC
|
|
tooth agenesis
|
PAX9*
|
Pax9*
|
2 models
|
HomoloGene and HGNC
|
|
torsion dystonia 1
|
TOR1A*
|
Tor1a*
|
7 models
|
HomoloGene and HGNC
|
|
torsion dystonia 6
|
THAP1*
|
Thap1*
|
2 models
|
HomoloGene and HGNC
|
|
Troyer syndrome
|
SPART*
|
Spg20*
|
1 model
|
HGNC
|
|
type I Ehlers-Danlos syndrome
|
COL5A1*
|
Col5a1*
|
2 models
|
HomoloGene and HGNC
|
|
Ullrich congenital muscular dystrophy
|
COL6A1*
|
Col6a1*
|
1 model
|
HomoloGene and HGNC
|
|
Ullrich congenital muscular dystrophy
|
COL6A3*
|
Col6a3*
|
1 model
|
HomoloGene and HGNC
|
|
vitelliform macular dystrophy
|
BEST1*
|
Best1*
|
2 models
|
HomoloGene and HGNC
|
|
von Hippel-Lindau disease
|
VHL*
|
Vhl*
|
16 models
|
HomoloGene and HGNC
|
|
von Willebrand's disease 2
|
VWF*
|
Vwf*
|
2 models
|
HomoloGene and HGNC
|
|
Werdnig-Hoffmann disease
|
SMN1*,
SMN2
|
Smn1*
|
17 models
|
HomoloGene and HGNC
|
|
WHIM syndrome
|
CXCR4*
|
Cxcr4*
|
1 model
|
HomoloGene and HGNC
|
|
Wilson disease
|
ATP7B*
|
Atp7b*
|
3 models
|
HomoloGene and HGNC
|
|
X-linked adrenal hypoplasia congenita
|
NR0B1*
|
Nr0b1*
|
1 model
|
HomoloGene and HGNC
|
|
X-linked agammaglobulinemia
|
BTK*
|
Btk*
|
8 models
|
HomoloGene and HGNC
|
|
X-linked cone-rod dystrophy 1
|
RPGR*
|
Rpgr*
|
2 models
|
HomoloGene and HGNC
|
|
X-linked distal spinal muscular atrophy 3
|
ATP7A*
|
Atp7a*
|
2 models
|
HomoloGene and HGNC
|
|
X-linked dominant hypophosphatemic rickets
|
PHEX*
|
Phex*
|
19 models
|
HomoloGene and HGNC
|
|
X-linked juvenile retinoschisis 1
|
RS1*
|
Rs1*
|
8 models
|
HomoloGene and HGNC
|
|
X-linked lymphoproliferative syndrome 1
|
SH2D1A*
|
Sh2d1a*
|
7 models
|
HomoloGene and HGNC
|
| | | |
46 XX gonadal dysgenesis
|
FANCL
|
Fancl*
|
1 model
|
HomoloGene and HGNC
|
|
achalasia
|
NOS1
|
Nos1*
|
1 model
|
HomoloGene and HGNC
|
|
achalasia
|
LMNA
|
Lmna*
|
2 models
|
HomoloGene and HGNC
|
|
achalasia
|
SPRY2
|
Spry2*
|
1 model
|
HomoloGene and HGNC
|
|
achondroplasia
|
PTHLH
|
Pthlh*
|
1 model
|
HomoloGene and HGNC
|
|
achondroplasia
|
NPR2
|
Npr2*
|
3 models
|
HomoloGene and HGNC
|
|
achondroplasia
|
ACAN
|
Acan*
|
1 model
|
HGNC
|
|
achondroplasia
|
SPRED2
|
Spred2*
|
1 model
|
HomoloGene and HGNC
|
|
achromatopsia
|
PDE6C
|
Pde6c*
|
2 models
|
HomoloGene and HGNC
|
|
acute lymphoblastic leukemia
|
EZH2
|
Ezh2*
|
2 models
|
HomoloGene and HGNC
|
|
acute lymphoblastic leukemia
|
KMT2A
|
Kmt2a*
|
1 model
|
HomoloGene and HGNC
|
|
acute lymphoblastic leukemia
|
LMO2
|
Lmo2*
|
1 model
|
HomoloGene and HGNC
|
|
acute lymphoblastic leukemia
|
NOTCH3
|
Notch3*
|
1 model
|
HomoloGene and HGNC
|
|
acute lymphoblastic leukemia
|
PTEN
|
Pten*
|
1 model
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
SPI1
|
Spi1*
|
1 model
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
MYBL2
|
Mybl2*
|
1 model
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
KMT2A
|
Kmt2a*
|
4 models
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
CREBBP
|
Crebbp*
|
1 model
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
ASXL1
|
Asxl1*
|
1 model
|
HomoloGene and HGNC
|
|
acute myeloid leukemia
|
ARID4A
|
Arid4a*
|
2 models
|
HomoloGene and HGNC
|
|
adrenal gland disease
|
MRAP
|
Mrap*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration
|
PPARGC1A
|
Ppargc1a*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration
|
CCL2
|
Ccl2*
|
3 models
|
HGNC
|
|
age related macular degeneration
|
CCR2
|
Ccr2*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration
|
CD46
|
Cd46*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration
|
MDM1
|
Mdm1*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration 1
|
VLDLR
|
Vldlr*
|
1 model
|
HomoloGene and HGNC
|
|
age related macular degeneration 1
|
CRYBA1
|
Cryba1*
|
1 model
|
HomoloGene and HGNC
|
|
aggressive periodontitis
|
POSTN
|
Postn*
|
1 model
|
HomoloGene and HGNC
|
|
alopecia
|
FAR2
|
Far2*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
PSEN1
|
Psen1*
|
52 models
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
PLCB1
|
Plcb1*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
PLAU
|
Plau*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
PIN1
|
Pin1*
|
2 models
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
MME
|
Mme*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
LRP1
|
Lrp1*
|
2 models
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
IL33
|
Il33*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
CAV1
|
Cav1*
|
1 model
|
HomoloGene and HGNC
|
|
Alzheimer's disease
|
APP
|
App*
|
117 models
|
HomoloGene and HGNC
|
|
amelogenesis imperfecta
|
RELT
|
Relt*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis
|
ZNF106
|
Zfp106*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis
|
PSMC4
|
Psmc4*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis
|
EPG5
|
Epg5*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis
|
ADARB1
|
Adarb1*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 1
|
SNCG
|
Sncg*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 1
|
SOD2
|
Sod2*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 1
|
VEGFA
|
Vegfa*
|
1 model
|
HomoloGene and HGNC
|
|
amyotrophic lateral sclerosis type 1
|
VPS54
|
Vps54*
|
1 model
|
HomoloGene and HGNC
|
|
androgen insensitivity syndrome
|
FKBP4
|
Fkbp4*
|
2 models
|
HomoloGene and HGNC
|
|
anencephaly
|
CECR2
|
Cecr2*
|
3 models
|
HomoloGene and HGNC
|
|
anencephaly
|
EFNA5
|
Efna5*
|
1 model
|
HomoloGene and HGNC
|
|
anencephaly
|
LMO4
|
Lmo4*
|
1 model
|
HomoloGene and HGNC
|
|
angle-closure glaucoma
|
TFAP2B
|
Tfap2b*
|
1 model
|
HomoloGene and HGNC
|
|
ankyloglossia
|
LGR5
|
Lgr5*
|
1 model
|
HomoloGene and HGNC
|
|
annular pancreas
|
GDF1
|
Gdf1*
|
1 model
|
HomoloGene and HGNC
|
|
annular pancreas
|
IHH
|
Ihh*
|
1 model
|
HomoloGene and HGNC
|
|
anterior segment dysgenesis
|
TSC1
|
Tsc1*
|
1 model
|
HomoloGene and HGNC
|
|
anterior segment dysgenesis
|
PITX3
|
Pitx3*
|
1 model
|
HomoloGene and HGNC
|
|
aortic aneurysm
|
KLF15
|
Klf15*
|
1 model
|
HomoloGene and HGNC
|
|
aortic aneurysm
|
ATP7A
|
Atp7a*
|
2 models
|
HomoloGene and HGNC
|
|
aortic aneurysm
|
EFEMP2
|
Efemp2*
|
2 models
|
HomoloGene and HGNC
|
|
aortic valve disease
|
ELN
|
Eln*
|
1 model
|
HGNC
|
|
aortic valve disease
|
RBPJ
|
Rbpj*
|
1 model
|
HomoloGene and HGNC
|
|
aortic valve disease
|
NOS3
|
Nos3*
|
1 model
|
HomoloGene and HGNC
|
|
aortic valve disease
|
HEY2
|
Hey2*
|
1 model
|
HomoloGene and HGNC
|
|
aortic valve disease
|
EGFR
|
Egfr*
|
2 models
|
HomoloGene and HGNC
|
|
aortic valve stenosis
|
TNF
|
Tnf*
|
1 model
|
HomoloGene and HGNC
|
|
aplastic anemia
|
RASA3
|
Rasa3*
|
1 model
|
HomoloGene and HGNC
|
|
arrhythmogenic right ventricular cardiomyopathy
|
PPP1R13L
|
Ppp1r13l*
|
1 model
|
HomoloGene and HGNC
|
|
arrhythmogenic right ventricular cardiomyopathy
|
PDLIM3
|
Pdlim3*
|
1 model
|
HGNC
|
|
arrhythmogenic right ventricular dysplasia 5
|
RPSA
|
Rpsa*
|
1 model
|
HomoloGene and HGNC
|
|
arterial tortuosity syndrome
|
MUS81
|
Mus81*
|
1 model
|
HomoloGene and HGNC
|
|
arteriovenous malformations of the brain
|
NOTCH4
|
Notch4*
|
1 model
|
HomoloGene and HGNC
|
|
arteriovenous malformations of the brain
|
ACVRL1
|
Acvrl1*
|
1 model
|
HomoloGene and HGNC
|
|
arteriovenous malformations of the brain
|
ENG
|
Eng*
|
1 model
|
HomoloGene and HGNC
|
|
asphyxiating thoracic dystrophy
|
|
srt*
|
1 model
|
|
|
asphyxiating thoracic dystrophy
|
SMARCAD1
|
Smarcad1*
|
1 model
|
HomoloGene and HGNC
|
|
asphyxiating thoracic dystrophy 1
|
IFT140
|
Ift140*
|
1 model
|
HomoloGene and HGNC
|
|
asphyxiating thoracic dystrophy 3
|
IFT80
|
Ift80*
|
1 model
|
HomoloGene and HGNC
|
|
asthma
|
IL4R
|
Il4ra*
|
2 models
|
HomoloGene and HGNC
|
|
asthma
|
TBX21
|
Tbx21*
|
2 models
|
HomoloGene and HGNC
|
|
asthma
|
RUNX3
|
Runx3*
|
1 model
|
HomoloGene and HGNC
|
|
asthma
|
ITGB6
|
Itgb6*
|
1 model
|
HomoloGene and HGNC
|
|
astrocytoma
|
HRAS
|
Hras*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
TMEM79
|
Tmem79*
|
2 models
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
IL4
|
Il4*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
IL13
|
Il13*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
IL18
|
Il18*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
NFKBIA
|
Nfkbia*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
WASL
|
Wasl*
|
1 model
|
HGNC
|
|
atopic dermatitis
|
TSLP
|
Tslp*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
TRPV3
|
Trpv3*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
TRAF3IP2
|
Traf3ip2*
|
5 models
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
NFKBIZ
|
Nfkbiz*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
|
Noa*
|
1 model
|
|
|
atopic dermatitis
|
RELB
|
Relb*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
SHARPIN
|
Sharpin*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
ADAM17
|
Adam17*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
CASP8
|
Casp8*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis
|
CTSE
|
Ctse*
|
1 model
|
HomoloGene and HGNC
|
|
atopic dermatitis 2
|
|
Flg*
|
1 model
|
|
|
atrial heart septal defect 1
|
|
pta*
|
1 model
|
|
|
atrial heart septal defect 1
|
CCN1
|
Ccn1*
|
1 model
|
HomoloGene and HGNC
|
|
atrial heart septal defect 1
|
NTF3
|
Ntf3*
|
1 model
|
HomoloGene and HGNC
|
|
atrial heart septal defect 1
|
|
avc2*
|
1 model
|
|
|
atrichia with papular lesions
|
ODC1
|
Odc1*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
|
avc3*
|
1 model
|
|
|
atrioventricular septal defect
|
BMP4
|
Bmp4*
|
2 models
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
CCN1
|
Ccn1*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
DNAH11
|
Dnah11*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
IFT172
|
Ift172*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
|
l11Jus16*
|
1 model
|
|
|
atrioventricular septal defect
|
MKS1
|
Mks1*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
NR1D2
|
Nr1d2*
|
1 model
|
HomoloGene and HGNC
|
|
atrioventricular septal defect
|
|
pta*
|
1 model
|
|
|
atypical hemolytic-uremic syndrome
|
CFH
|
Cfh*
|
1 model
|
HomoloGene and HGNC
|
|
auditory system disease
|
FSCN2
|
Fscn2*
|
1 model
|
HomoloGene and HGNC
|
|
autoimmune hemolytic anemia
|
TSLP
|
Tslp*
|
1 model
|
HomoloGene and HGNC
|
|
autoimmune hypersensitivity disease
|
C9orf72
|
C9orf72*
|
3 models
|
HomoloGene and HGNC
|
|
autoimmune hypersensitivity disease
|
CD200
|
Cd200*
|
1 model
|
HomoloGene and HGNC
|
|
autoimmune hypersensitivity disease
|
GPR132
|
Gpr132*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant cerebellar ataxia
|
CACNA1G
|
Cacna1g*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 25
|
TRPV4
|
Trpv4*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant nonsyndromic deafness 4A
|
CEACAM16
|
Ceacam16*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant polycystic kidney disease
|
PKD2
|
Pkd2*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant polycystic kidney disease
|
BICC1
|
Bicc1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant polycystic kidney disease
|
MYC
|
Myc*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal dominant polycystic kidney disease
|
NPHP3
|
Nphp3*
|
3 models
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 4B
|
CST6
|
Cst6*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 4B
|
PIGA
|
Piga*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive congenital ichthyosis 4B
|
PRSS8
|
Prss8*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive nonsyndromic deafness
|
ATP6V1B1
|
Atp6v1b1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive osteopetrosis 1
|
CCDC154
|
Ccdc154*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
PKHD1
|
Pkhd1*
|
6 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
BICC1
|
Bicc1*
|
6 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
CYS1
|
Cys1*
|
5 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
DZIP1L
|
Dzip1l*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
IFT88
|
Ift88*
|
4 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
NEK1
|
Nek1*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
NEK8
|
Nek8*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
PKD1
|
Pkd1*
|
2 models
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
SCLT1
|
Sclt1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
TSC1
|
Tsc1*
|
1 model
|
HomoloGene and HGNC
|
|
autosomal recessive polycystic kidney disease
|
ARL3
|
Arl3*
|
1 model
|
HomoloGene and HGNC
|
|
Axenfeld-Rieger syndrome type 1
|
HMGN2
|
Hmgn2*
|
1 model
|
HGNC
|
|
Axenfeld-Rieger syndrome type 3
|
BMP4
|
Bmp4*
|
1 model
|
HomoloGene and HGNC
|
|
azoospermia
|
SYCP3
|
Sycp3*
|
1 model
|
HomoloGene and HGNC
|
|
azoospermia
|
GOPC
|
Gopc*
|
1 model
|
HomoloGene and HGNC
|
|
Bartter disease
|
CLCNKA,
CLCNKB
|
Clcnkb*,
Clcnka
|
1 model
|
HGNC
|
|
basal cell carcinoma
|
PTCH1
|
Ptch1*
|
3 models
|
HomoloGene and HGNC
|
|
B-cell lymphoma
|
EZH2
|
Ezh2*
|
1 model
|
HomoloGene and HGNC
|
|
beta thalassemia
|
KLF1
|
Klf1*
|
1 model
|
HomoloGene and HGNC
|
|
beta thalassemia
|
|
Hbb-b1*
|
12 models
|
|
|
biliary atresia
|
SOX17
|
Sox17*
|
1 model
|
HomoloGene and HGNC
|
|
bladder exstrophy
|
TP63
|
Trp63*
|
1 model
|
HomoloGene and HGNC
|
|
Bloch-Sulzberger syndrome
|
NSDHL
|
Nsdhl*
|
1 model
|
HomoloGene and HGNC
|
|
bone development disease
|
NPR2
|
Npr2*
|
1 model
|
HomoloGene and HGNC
|
|
bone disease
|
NPR3
|
Npr3*
|
1 model
|
HomoloGene and HGNC
|
|
bone structure disease
|
QRFPR
|
Qrfpr*
|
1 model
|
HomoloGene and HGNC
|
|
bone structure disease
|
POSTN
|
Postn*
|
1 model
|
HomoloGene and HGNC
|
|
brachydactyly type A1
|
SHH
|
Shh*
|
1 model
|
HomoloGene and HGNC
|
|
brain disease
|
PTEN
|
Pten*
|
1 model
|
HomoloGene and HGNC
|
|
breast cancer
|
SMARCA4
|
Smarca4*
|
1 model
|
HomoloGene and HGNC
|
|
breast cancer
|
APC
|
Apc*
|
2 models
|
HomoloGene and HGNC
|
|
breast cancer
|
CAV1
|
Cav1*
|
1 model
|
HomoloGene and HGNC
|
|
breast cancer
|
ERBB2
|
Erbb2*
|
21 models
|
HomoloGene and HGNC
|
|
breast cancer
|
ESPL1
|
Espl1*
|
|
Excel File