C2936791

Antley-Bixler Syndrome, Autosomal Dominant

FGFR1, FGFR2

C2937358

Cerebral Hemorrhage

ACE, HMOX1, ITGAV, ITGB3, MMP2, MMP9, SERPINC1, NPPB, PLAT, PLAU, POMC, BAX, BCL2, S100B, SPP1, VEGFA, CASP8

C2937421

Prostatic Hyperplasia

FGF7, KLK3, PRL, SRD5A2

C2939465

Deficiency Of Glucose-6-Phosphate Dehydrogenase

G6PD

C2973527

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

DSPP

C3178805

Heterotaxy Syndrome

TDGF1, ACVR2B

C3179239

Osteopetrosis Autosomal Dominant Type 2

CLCN7

C3179455

Niemann-Pick Disease, Type C1

NPC1

C3203102

Idiopathic Pulmonary Arterial Hypertension

BMPR2

C3203358

Hypoventilation

DCTN1

C3463824

Myelodysplastic Syndrome

CDKN2B, CTNNA1, DAPK1, EZH2, PLCB1, HFE, MYC, ATRX, DLK1, CFLAR, SPHK1

C3489413

Lipomatosis, Multiple

HMGA2

C3494506

Pseudohypoparathyroidism, Type Ia

GNAS

C3495483

Amish Brittle Hair Brain Syndrome

MPLKIP

C3495559

Juvenile Arthritis

PLK2, ADCY7, CLU, CREM, SIK1, CAMSAP1, DAPK1, GADD45A, DDIT3, HBEGF, DUSP1, DUSP2, EGR1, ZFC3H1, CTTN, C9orf72, FCGR1A, JMJD1C, R3HDM2, TNIK, STAB1, FOS, FOSB, FOSL2, MAFF, FOXP1, GMPR, GNG11, GP1BB, NEAT1, CXCL1, NRG1, HSPA6, IGF1R, IL1RN, AQP9, ITGB5, JUN, AREG, KRAS, LPP, SMAD3, MAP2, RERE, NR4A2, OLR1, MEX3C, MS4A4A, PER1, PLAUR, PLOD2, RBM47, ACPP, ETNK1, MAPK1, ZFAND3, HERPUD2, SLC2A3, SLC11A1, STAT3, TCF7L2, BTG1, TFDP1, TFPI, THBS1, TNFAIP6, TUBB2A, UBE2E1, RNF103, CXCR4, CALD1, NR4A3, NDEL1, MAD1L1, MAML2, AOPEP, MIR22HG, TNFRSF10C, CD14, CD83, KLF4, B4GALT5, PCYT1B, UBE3C, MTSS1, FCHSD2

C3495801

Granulomatosis With Polyangiitis

FCGR3B

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3541456

Spondyloepiphyseal Dysplasia Tarda, X-Linked

TRAPPC2

C3658267

Prostatic Neoplasms, Castration-Resistant

AKR1C3

C3665358

Galactorrhea

PRL

C3714514

Infection

CRP, MBL2, POMC, TNF

C3714756

Intellectual Disability

FRY, CHL1, ASCC3, CAPN10, ERLIN2, MAN1B1, C12orf57, ZNF526, RAB39B, SLC31A1, PTCHD1, PARP1, CCBE1, ADRA2B, DYNC1H1, EEF1B2, FASN, FGFR2, FOXG1, CIC, FMR1, FOLR1, GNAS, WDR62, HEXA, APC, NDST1, INPP4A, LETM1, MEF2C, ASCL1, NAGLU, SCAPER, LARP7, PMM2, TMCO1, AHI1, GON4L, LINS1, BBS7, RABL6, POLR3B, INPP5E, PTEN, RALGDS, KDM5A, RGS7, BDNF, SC5D, TMEM135, SLC2A1, TH, VRK1, YY1, CA8, COL18A1, DOCK8, MFSD2A, PRKRA, SYNGAP1, CCNA2, CACNA1G, NRXN1, HDAC4, ZBTB40

C3853779

Neonatal Alloimmune Thrombocytopenia

ITGB3

C3854181

Nevus Sebaceous

KRAS

C3887645

Job Syndrome

STAT3, DOCK8

C3888018

Congenital Hyperinsulinism

KCNJ11

C4041080

Neurocognitive Disorders

INS

C4042891

Sleep Wake Disorders

HTR7, IL1B, POMC